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The TREAT‐NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Identifieur interne : 002C78 ( Istex/Corpus ); précédent : 002C77; suivant : 002C79

The TREAT‐NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Auteurs : Catherine L. Bladen ; Karen Rafferty ; Volker Straub ; Soledad Monges ; Angélica Moresco ; Hugh Dawkins ; Anna Roy ; Teodora Chamova ; Velina Guergueltcheva ; Lawrence Korngut ; Craig Campbell ; Yi Dai ; Nina Bariši ; Tea Kos ; Petr Brabec ; Jes Rahbek ; Jaana Lahdetie ; Sylvie Tuffery-Giraud ; Mireille Claustres ; France Leturcq ; Rabah Ben Yaou ; Maggie C. Walter ; Olivia Schreiber ; Veronika Karcagi ; Agnes Herczegfalvi ; Venkatarman Viswanathan ; Farhad Bayat ; Isis De La Caridad Guerrero Sarmiento ; Anna Ambrosini ; Francesca Ceradini ; En Kimura ; Janneke C. Van Den Bergen ; Miriam Rodrigues ; Richard Roxburgh ; Anna Lusakowska ; Jorge Oliveira ; Rosário Santos ; Elena Neagu ; Niculina Butoianu ; Svetlana Artemieva ; Vedrana Milic Rasic ; Manuel Posada ; Francesc Palau ; Björn Lindvall ; Clemens Bloetzer ; Ay E Karaduman ; Haluk Topalo Lu ; Serap Inal ; Piraye Oflazer ; Angela Stringer ; Andriy V. Shatillo ; Ann S. Martin ; Holly Peay ; Kevin M. Flanigan ; David Salgado ; Brigitta Von Rekowski ; Stephen Lynn ; Emma Heslop ; Sabina Gainotti ; Domenica Taruscio ; Jan Kirschner ; Jan Verschuuren ; Kate Bushby ; Christophe Béroud ; Hanns Lochmüller

Source :

RBID : ISTEX:ED09C20547A46A07FCD5E3437FB6E3F693AC792D

English descriptors

Abstract

Duchenne muscular dystrophy (DMD) is an X‐linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence <5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes. TREAT‐NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT‐NMD. For the DMD registries within TREAT‐NMD, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here, we describe how the TREAT‐NMD national patient registries for DMD were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.

Url:
DOI: 10.1002/humu.22390

Links to Exploration step

ISTEX:ED09C20547A46A07FCD5E3437FB6E3F693AC792D

Le document en format XML

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<name sortKey="Chamova, Teodora" sort="Chamova, Teodora" uniqKey="Chamova T" first="Teodora" last="Chamova">Teodora Chamova</name>
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<name sortKey="Guergueltcheva, Velina" sort="Guergueltcheva, Velina" uniqKey="Guergueltcheva V" first="Velina" last="Guergueltcheva">Velina Guergueltcheva</name>
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<name sortKey="Campbell, Craig" sort="Campbell, Craig" uniqKey="Campbell C" first="Craig" last="Campbell">Craig Campbell</name>
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<name sortKey="Dai, Yi" sort="Dai, Yi" uniqKey="Dai Y" first="Yi" last="Dai">Yi Dai</name>
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<name sortKey="Barisi, Nina" sort="Barisi, Nina" uniqKey="Barisi N" first="Nina" last="Bariši">Nina Bariši</name>
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<mods:affiliation>Division of Paediatric Neurology, University Hospital Centre Zagreb (KBC Zagreb), University of Zagreb Medical School, Zagreb, Croatia</mods:affiliation>
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<name sortKey="Kos, Tea" sort="Kos, Tea" uniqKey="Kos T" first="Tea" last="Kos">Tea Kos</name>
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<mods:affiliation>Division of Paediatric Neurology, University Hospital Centre Zagreb (KBC Zagreb), University of Zagreb Medical School, Zagreb, Croatia</mods:affiliation>
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<name sortKey="Brabec, Petr" sort="Brabec, Petr" uniqKey="Brabec P" first="Petr" last="Brabec">Petr Brabec</name>
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<name sortKey="Rahbek, Jes" sort="Rahbek, Jes" uniqKey="Rahbek J" first="Jes" last="Rahbek">Jes Rahbek</name>
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<mods:affiliation>National Danish Rehabilitation Centre for Neuromuscular Diseases, Aarhus, Denmark</mods:affiliation>
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<name sortKey="Lahdetie, Jaana" sort="Lahdetie, Jaana" uniqKey="Lahdetie J" first="Jaana" last="Lahdetie">Jaana Lahdetie</name>
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<mods:affiliation>Turku University Central Hospital, Turku, Finland</mods:affiliation>
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<name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name>
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<name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
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<name sortKey="Leturcq, France" sort="Leturcq, France" uniqKey="Leturcq F" first="France" last="Leturcq">France Leturcq</name>
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<name sortKey="Ben Yaou, Rabah" sort="Ben Yaou, Rabah" uniqKey="Ben Yaou R" first="Rabah" last="Ben Yaou">Rabah Ben Yaou</name>
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<name sortKey="Schreiber, Olivia" sort="Schreiber, Olivia" uniqKey="Schreiber O" first="Olivia" last="Schreiber">Olivia Schreiber</name>
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<name sortKey="Karcagi, Veronika" sort="Karcagi, Veronika" uniqKey="Karcagi V" first="Veronika" last="Karcagi">Veronika Karcagi</name>
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<mods:affiliation>NIEH, Molecular Genetic Department, Budapest, Hungary</mods:affiliation>
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<name sortKey="Herczegfalvi, Agnes" sort="Herczegfalvi, Agnes" uniqKey="Herczegfalvi A" first="Agnes" last="Herczegfalvi">Agnes Herczegfalvi</name>
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<mods:affiliation>NIEH, Molecular Genetic Department, Budapest, Hungary</mods:affiliation>
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<name sortKey="Viswanathan, Venkatarman" sort="Viswanathan, Venkatarman" uniqKey="Viswanathan V" first="Venkatarman" last="Viswanathan">Venkatarman Viswanathan</name>
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<mods:affiliation>Kanchi Kamakoti CHILDS Trust Hospital, Nungambakkam, Chennai, India</mods:affiliation>
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<name sortKey="Bayat, Farhad" sort="Bayat, Farhad" uniqKey="Bayat F" first="Farhad" last="Bayat">Farhad Bayat</name>
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<mods:affiliation>Pasteur Institute of Iran, Karaj Complex, Tehran, Iran</mods:affiliation>
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<name sortKey="De La Caridad Guerrero Sarmiento, Isis" sort="De La Caridad Guerrero Sarmiento, Isis" uniqKey="De La Caridad Guerrero Sarmiento I" first="Isis" last="De La Caridad Guerrero Sarmiento">Isis De La Caridad Guerrero Sarmiento</name>
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<mods:affiliation>Pasteur Institute of Iran, Karaj Complex, Tehran, Iran</mods:affiliation>
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<name sortKey="Ambrosini, Anna" sort="Ambrosini, Anna" uniqKey="Ambrosini A" first="Anna" last="Ambrosini">Anna Ambrosini</name>
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<mods:affiliation>Fondazione Telethon‐Piazza Cavour 1, Milan, Italy</mods:affiliation>
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<name sortKey="Ceradini, Francesca" sort="Ceradini, Francesca" uniqKey="Ceradini F" first="Francesca" last="Ceradini">Francesca Ceradini</name>
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<mods:affiliation>Parent Project Onlus, Via Aurelia 1299 Roma, Italy</mods:affiliation>
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<name sortKey="Kimura, En" sort="Kimura, En" uniqKey="Kimura E" first="En" last="Kimura">En Kimura</name>
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<mods:affiliation>Translational Medical Centre, National Centre of Neurology and Psychiatry, 4‐1‐1 Ogawa‐Higashi, Kodaira, Tokyo 187‐8551, Japan</mods:affiliation>
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</author>
<author>
<name sortKey="Van Den Bergen, Janneke C" sort="Van Den Bergen, Janneke C" uniqKey="Van Den Bergen J" first="Janneke C." last="Van Den Bergen">Janneke C. Van Den Bergen</name>
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<mods:affiliation>Leiden University Medical Center, Department of Neurology, ZA, Leiden, The Netherlands</mods:affiliation>
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<name sortKey="Rodrigues, Miriam" sort="Rodrigues, Miriam" uniqKey="Rodrigues M" first="Miriam" last="Rodrigues">Miriam Rodrigues</name>
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<name sortKey="Roxburgh, Richard" sort="Roxburgh, Richard" uniqKey="Roxburgh R" first="Richard" last="Roxburgh">Richard Roxburgh</name>
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<mods:affiliation>Neurology, Auckland City Hospital, Auckland, New Zealand</mods:affiliation>
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<author>
<name sortKey="Lusakowska, Anna" sort="Lusakowska, Anna" uniqKey="Lusakowska A" first="Anna" last="Lusakowska">Anna Lusakowska</name>
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<mods:affiliation>Department of Neurology, Warszawa Banacha 1a, Poland</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Oliveira, Jorge" sort="Oliveira, Jorge" uniqKey="Oliveira J" first="Jorge" last="Oliveira">Jorge Oliveira</name>
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<mods:affiliation>Centro de Genética Médica Jacinto Magalhães, Porto, Portugal</mods:affiliation>
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<name sortKey="Santos, Rosario" sort="Santos, Rosario" uniqKey="Santos R" first="Rosário" last="Santos">Rosário Santos</name>
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<mods:affiliation>Centro de Genética Médica Jacinto Magalhães, Porto, Portugal</mods:affiliation>
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<name sortKey="Neagu, Elena" sort="Neagu, Elena" uniqKey="Neagu E" first="Elena" last="Neagu">Elena Neagu</name>
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<mods:affiliation>Pediatric Neurology Department, Hospital Al. Obregia, Bucharest, Romania</mods:affiliation>
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<name sortKey="Butoianu, Niculina" sort="Butoianu, Niculina" uniqKey="Butoianu N" first="Niculina" last="Butoianu">Niculina Butoianu</name>
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<mods:affiliation>Pediatric Neurology Department, Hospital Al. Obregia, Bucharest, Romania</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Artemieva, Svetlana" sort="Artemieva, Svetlana" uniqKey="Artemieva S" first="Svetlana" last="Artemieva">Svetlana Artemieva</name>
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<mods:affiliation>Rublevskoe shosse, Moscow, Russia</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Rasic, Vedrana Milic" sort="Rasic, Vedrana Milic" uniqKey="Rasic V" first="Vedrana Milic" last="Rasic">Vedrana Milic Rasic</name>
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<mods:affiliation>Clinic for Child Neurology and Psychiatry, Belgrade, Serbia</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Posada, Manuel" sort="Posada, Manuel" uniqKey="Posada M" first="Manuel" last="Posada">Manuel Posada</name>
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<mods:affiliation>Institute of Rare Diseases Research, Institute of Health Carlos III, Madrid, Spain</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Palau, Francesc" sort="Palau, Francesc" uniqKey="Palau F" first="Francesc" last="Palau">Francesc Palau</name>
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<mods:affiliation>Unit of Genetics, Hospital la Fe, Valencia, Spain</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Lindvall, Bjorn" sort="Lindvall, Bjorn" uniqKey="Lindvall B" first="Björn" last="Lindvall">Björn Lindvall</name>
<affiliation>
<mods:affiliation>Muskelcentrum, Dep of Neurology, Örebro, USÖ, Sweden</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Bloetzer, Clemens" sort="Bloetzer, Clemens" uniqKey="Bloetzer C" first="Clemens" last="Bloetzer">Clemens Bloetzer</name>
<affiliation>
<mods:affiliation>Paediatric Neurology and Neurorehabilitation Unit, Lausanne University Hospital, Lausanne, Switzerland</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Karaduman, Ay E" sort="Karaduman, Ay E" uniqKey="Karaduman A" first="Ay E" last="Karaduman">Ay E Karaduman</name>
<affiliation>
<mods:affiliation>Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation, Ankara, Altındağ, Turkey</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Topalo Lu, Haluk" sort="Topalo Lu, Haluk" uniqKey="Topalo Lu H" first="Haluk" last="Topalo Lu">Haluk Topalo Lu</name>
<affiliation>
<mods:affiliation>Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation, Ankara, Altındağ, Turkey</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Inal, Serap" sort="Inal, Serap" uniqKey="Inal S" first="Serap" last="Inal">Serap Inal</name>
<affiliation>
<mods:affiliation>Istanbul University Faculty of Medicine, Neurology Department, PTR Unit, Istanbul, Turkey</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Oflazer, Piraye" sort="Oflazer, Piraye" uniqKey="Oflazer P" first="Piraye" last="Oflazer">Piraye Oflazer</name>
<affiliation>
<mods:affiliation>Istanbul University Faculty of Medicine, Neurology Department, PTR Unit, Istanbul, Turkey</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Stringer, Angela" sort="Stringer, Angela" uniqKey="Stringer A" first="Angela" last="Stringer">Angela Stringer</name>
<affiliation>
<mods:affiliation>Action Duchenne, Epicentre, London, UK</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Shatillo, Andriy V" sort="Shatillo, Andriy V" uniqKey="Shatillo A" first="Andriy V." last="Shatillo">Andriy V. Shatillo</name>
<affiliation>
<mods:affiliation>Institute of Neurology, Psychiatry and Narcology of NAMS, Kharkiv, Ukraine</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Martin, Ann S" sort="Martin, Ann S" uniqKey="Martin A" first="Ann S." last="Martin">Ann S. Martin</name>
<affiliation>
<mods:affiliation>DuchenneConnect, New Jersey, Hackensack</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Peay, Holly" sort="Peay, Holly" uniqKey="Peay H" first="Holly" last="Peay">Holly Peay</name>
<affiliation>
<mods:affiliation>DuchenneConnect, New Jersey, Hackensack</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Flanigan, Kevin M" sort="Flanigan, Kevin M" uniqKey="Flanigan K" first="Kevin M." last="Flanigan">Kevin M. Flanigan</name>
<affiliation>
<mods:affiliation>The Ohio State University, and Nationwide Children's Hospital, Ohio, Columbus</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Salgado, David" sort="Salgado, David" uniqKey="Salgado D" first="David" last="Salgado">David Salgado</name>
<affiliation>
<mods:affiliation>INSERM UMR_S910, Aix‐Marseille UniversitéFaculté de Médecine La Timone, Marseille Cedex, France</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>Australian Regenerative Medicine Institute, EMBL‐Australia, Monash University, Clayton Campus</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Von Rekowski, Brigitta" sort="Von Rekowski, Brigitta" uniqKey="Von Rekowski B" first="Brigitta" last="Von Rekowski">Brigitta Von Rekowski</name>
<affiliation>
<mods:affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Lynn, Stephen" sort="Lynn, Stephen" uniqKey="Lynn S" first="Stephen" last="Lynn">Stephen Lynn</name>
<affiliation>
<mods:affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Heslop, Emma" sort="Heslop, Emma" uniqKey="Heslop E" first="Emma" last="Heslop">Emma Heslop</name>
<affiliation>
<mods:affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Gainotti, Sabina" sort="Gainotti, Sabina" uniqKey="Gainotti S" first="Sabina" last="Gainotti">Sabina Gainotti</name>
<affiliation>
<mods:affiliation>National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Taruscio, Domenica" sort="Taruscio, Domenica" uniqKey="Taruscio D" first="Domenica" last="Taruscio">Domenica Taruscio</name>
<affiliation>
<mods:affiliation>National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Kirschner, Jan" sort="Kirschner, Jan" uniqKey="Kirschner J" first="Jan" last="Kirschner">Jan Kirschner</name>
<affiliation>
<mods:affiliation>University Medical Center, Freiburg, Germany</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Verschuuren, Jan" sort="Verschuuren, Jan" uniqKey="Verschuuren J" first="Jan" last="Verschuuren">Jan Verschuuren</name>
<affiliation>
<mods:affiliation>Leiden University Medical Center, Department of Neurology, ZA, Leiden, The Netherlands</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Bushby, Kate" sort="Bushby, Kate" uniqKey="Bushby K" first="Kate" last="Bushby">Kate Bushby</name>
<affiliation>
<mods:affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Béroud">Christophe Béroud</name>
<affiliation>
<mods:affiliation>INSERM UMR_S910, Aix‐Marseille UniversitéFaculté de Médecine La Timone, Marseille Cedex, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name>
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<mods:affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</mods:affiliation>
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<mods:affiliation>E-mail: hanns.lochmuller@ncl.ac.uk</mods:affiliation>
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uchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia</title>
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<name sortKey="Bladen, Catherine L" sort="Bladen, Catherine L" uniqKey="Bladen C" first="Catherine L." last="Bladen">Catherine L. Bladen</name>
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<mods:affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Rafferty, Karen" sort="Rafferty, Karen" uniqKey="Rafferty K" first="Karen" last="Rafferty">Karen Rafferty</name>
<affiliation>
<mods:affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Straub, Volker" sort="Straub, Volker" uniqKey="Straub V" first="Volker" last="Straub">Volker Straub</name>
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<mods:affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Monges, Soledad" sort="Monges, Soledad" uniqKey="Monges S" first="Soledad" last="Monges">Soledad Monges</name>
<affiliation>
<mods:affiliation>Hospital Pediatría J. P. Garrahan, Argentina</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Moresco, Angelica" sort="Moresco, Angelica" uniqKey="Moresco A" first="Angélica" last="Moresco">Angélica Moresco</name>
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<mods:affiliation>Hospital Pediatría J. P. Garrahan, Argentina</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Dawkins, Hugh" sort="Dawkins, Hugh" uniqKey="Dawkins H" first="Hugh" last="Dawkins">Hugh Dawkins</name>
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<mods:affiliation>Office of Population Health Genomics, Department of Health, 189 Royal Street, Level 3C Western Australia, Australia</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Roy, Anna" sort="Roy, Anna" uniqKey="Roy A" first="Anna" last="Roy">Anna Roy</name>
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<mods:affiliation>WIV‐ISP, Brussels, Belgium</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Chamova, Teodora" sort="Chamova, Teodora" uniqKey="Chamova T" first="Teodora" last="Chamova">Teodora Chamova</name>
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<mods:affiliation>Department of Neurology, Medical University‐Sofia, Sofia, Bulgaria</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Guergueltcheva, Velina" sort="Guergueltcheva, Velina" uniqKey="Guergueltcheva V" first="Velina" last="Guergueltcheva">Velina Guergueltcheva</name>
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<mods:affiliation>Department of Neurology, Medical University‐Sofia, Sofia, Bulgaria</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Korngut, Lawrence" sort="Korngut, Lawrence" uniqKey="Korngut L" first="Lawrence" last="Korngut">Lawrence Korngut</name>
<affiliation>
<mods:affiliation>University of Calgary, Health Sciences Centre, NW Calgary, Alberta, Canada</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Campbell, Craig" sort="Campbell, Craig" uniqKey="Campbell C" first="Craig" last="Campbell">Craig Campbell</name>
<affiliation>
<mods:affiliation>Department of Paediatrics, Clinical Neurological Sciences and Epidemiology, Western University, London, Ontario, Canada</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Dai, Yi" sort="Dai, Yi" uniqKey="Dai Y" first="Yi" last="Dai">Yi Dai</name>
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<mods:affiliation>Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Barisi, Nina" sort="Barisi, Nina" uniqKey="Barisi N" first="Nina" last="Bariši">Nina Bariši</name>
<affiliation>
<mods:affiliation>Division of Paediatric Neurology, University Hospital Centre Zagreb (KBC Zagreb), University of Zagreb Medical School, Zagreb, Croatia</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Kos, Tea" sort="Kos, Tea" uniqKey="Kos T" first="Tea" last="Kos">Tea Kos</name>
<affiliation>
<mods:affiliation>Division of Paediatric Neurology, University Hospital Centre Zagreb (KBC Zagreb), University of Zagreb Medical School, Zagreb, Croatia</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Brabec, Petr" sort="Brabec, Petr" uniqKey="Brabec P" first="Petr" last="Brabec">Petr Brabec</name>
<affiliation>
<mods:affiliation>Institute for Biostatistics and Analyses, Masaryk University, Brno, Czech Republic</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Rahbek, Jes" sort="Rahbek, Jes" uniqKey="Rahbek J" first="Jes" last="Rahbek">Jes Rahbek</name>
<affiliation>
<mods:affiliation>National Danish Rehabilitation Centre for Neuromuscular Diseases, Aarhus, Denmark</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Lahdetie, Jaana" sort="Lahdetie, Jaana" uniqKey="Lahdetie J" first="Jaana" last="Lahdetie">Jaana Lahdetie</name>
<affiliation>
<mods:affiliation>Turku University Central Hospital, Turku, Finland</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Tuffery Iraud, Sylvie" sort="Tuffery Iraud, Sylvie" uniqKey="Tuffery Iraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name>
<affiliation>
<mods:affiliation>Laboratoire de Génétique de Maladies Rares, Université Montpellier 1 and Inserm U827, Montpellier, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name>
<affiliation>
<mods:affiliation>Laboratoire de Génétique de Maladies Rares, Université Montpellier 1 and Inserm U827, Montpellier, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Leturcq, France" sort="Leturcq, France" uniqKey="Leturcq F" first="France" last="Leturcq">France Leturcq</name>
<affiliation>
<mods:affiliation>Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Paris, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Ben Yaou, Rabah" sort="Ben Yaou, Rabah" uniqKey="Ben Yaou R" first="Rabah" last="Ben Yaou">Rabah Ben Yaou</name>
<affiliation>
<mods:affiliation>Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Paris, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Walter, Maggie C" sort="Walter, Maggie C" uniqKey="Walter M" first="Maggie C." last="Walter">Maggie C. Walter</name>
<affiliation>
<mods:affiliation>Friedrich‐Baur‐Institute, Department of Neurology, Ludwig‐Maximilians‐University of Munich, Munich, Germany</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Schreiber, Olivia" sort="Schreiber, Olivia" uniqKey="Schreiber O" first="Olivia" last="Schreiber">Olivia Schreiber</name>
<affiliation>
<mods:affiliation>Friedrich‐Baur‐Institute, Department of Neurology, Ludwig‐Maximilians‐University of Munich, Munich, Germany</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Karcagi, Veronika" sort="Karcagi, Veronika" uniqKey="Karcagi V" first="Veronika" last="Karcagi">Veronika Karcagi</name>
<affiliation>
<mods:affiliation>NIEH, Molecular Genetic Department, Budapest, Hungary</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Herczegfalvi, Agnes" sort="Herczegfalvi, Agnes" uniqKey="Herczegfalvi A" first="Agnes" last="Herczegfalvi">Agnes Herczegfalvi</name>
<affiliation>
<mods:affiliation>NIEH, Molecular Genetic Department, Budapest, Hungary</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Viswanathan, Venkatarman" sort="Viswanathan, Venkatarman" uniqKey="Viswanathan V" first="Venkatarman" last="Viswanathan">Venkatarman Viswanathan</name>
<affiliation>
<mods:affiliation>Kanchi Kamakoti CHILDS Trust Hospital, Nungambakkam, Chennai, India</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Bayat, Farhad" sort="Bayat, Farhad" uniqKey="Bayat F" first="Farhad" last="Bayat">Farhad Bayat</name>
<affiliation>
<mods:affiliation>Pasteur Institute of Iran, Karaj Complex, Tehran, Iran</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="De La Caridad Guerrero Sarmiento, Isis" sort="De La Caridad Guerrero Sarmiento, Isis" uniqKey="De La Caridad Guerrero Sarmiento I" first="Isis" last="De La Caridad Guerrero Sarmiento">Isis De La Caridad Guerrero Sarmiento</name>
<affiliation>
<mods:affiliation>Pasteur Institute of Iran, Karaj Complex, Tehran, Iran</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Ambrosini, Anna" sort="Ambrosini, Anna" uniqKey="Ambrosini A" first="Anna" last="Ambrosini">Anna Ambrosini</name>
<affiliation>
<mods:affiliation>Fondazione Telethon‐Piazza Cavour 1, Milan, Italy</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Ceradini, Francesca" sort="Ceradini, Francesca" uniqKey="Ceradini F" first="Francesca" last="Ceradini">Francesca Ceradini</name>
<affiliation>
<mods:affiliation>Parent Project Onlus, Via Aurelia 1299 Roma, Italy</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Kimura, En" sort="Kimura, En" uniqKey="Kimura E" first="En" last="Kimura">En Kimura</name>
<affiliation>
<mods:affiliation>Translational Medical Centre, National Centre of Neurology and Psychiatry, 4‐1‐1 Ogawa‐Higashi, Kodaira, Tokyo 187‐8551, Japan</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Van Den Bergen, Janneke C" sort="Van Den Bergen, Janneke C" uniqKey="Van Den Bergen J" first="Janneke C." last="Van Den Bergen">Janneke C. Van Den Bergen</name>
<affiliation>
<mods:affiliation>Leiden University Medical Center, Department of Neurology, ZA, Leiden, The Netherlands</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Rodrigues, Miriam" sort="Rodrigues, Miriam" uniqKey="Rodrigues M" first="Miriam" last="Rodrigues">Miriam Rodrigues</name>
<affiliation>
<mods:affiliation>Neurology, Auckland City Hospital, Auckland, New Zealand</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Roxburgh, Richard" sort="Roxburgh, Richard" uniqKey="Roxburgh R" first="Richard" last="Roxburgh">Richard Roxburgh</name>
<affiliation>
<mods:affiliation>Neurology, Auckland City Hospital, Auckland, New Zealand</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Lusakowska, Anna" sort="Lusakowska, Anna" uniqKey="Lusakowska A" first="Anna" last="Lusakowska">Anna Lusakowska</name>
<affiliation>
<mods:affiliation>Department of Neurology, Warszawa Banacha 1a, Poland</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Oliveira, Jorge" sort="Oliveira, Jorge" uniqKey="Oliveira J" first="Jorge" last="Oliveira">Jorge Oliveira</name>
<affiliation>
<mods:affiliation>Centro de Genética Médica Jacinto Magalhães, Porto, Portugal</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Santos, Rosario" sort="Santos, Rosario" uniqKey="Santos R" first="Rosário" last="Santos">Rosário Santos</name>
<affiliation>
<mods:affiliation>Centro de Genética Médica Jacinto Magalhães, Porto, Portugal</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Neagu, Elena" sort="Neagu, Elena" uniqKey="Neagu E" first="Elena" last="Neagu">Elena Neagu</name>
<affiliation>
<mods:affiliation>Pediatric Neurology Department, Hospital Al. Obregia, Bucharest, Romania</mods:affiliation>
</affiliation>
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<name sortKey="Butoianu, Niculina" sort="Butoianu, Niculina" uniqKey="Butoianu N" first="Niculina" last="Butoianu">Niculina Butoianu</name>
<affiliation>
<mods:affiliation>Pediatric Neurology Department, Hospital Al. Obregia, Bucharest, Romania</mods:affiliation>
</affiliation>
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<author>
<name sortKey="Artemieva, Svetlana" sort="Artemieva, Svetlana" uniqKey="Artemieva S" first="Svetlana" last="Artemieva">Svetlana Artemieva</name>
<affiliation>
<mods:affiliation>Rublevskoe shosse, Moscow, Russia</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Rasic, Vedrana Milic" sort="Rasic, Vedrana Milic" uniqKey="Rasic V" first="Vedrana Milic" last="Rasic">Vedrana Milic Rasic</name>
<affiliation>
<mods:affiliation>Clinic for Child Neurology and Psychiatry, Belgrade, Serbia</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Posada, Manuel" sort="Posada, Manuel" uniqKey="Posada M" first="Manuel" last="Posada">Manuel Posada</name>
<affiliation>
<mods:affiliation>Institute of Rare Diseases Research, Institute of Health Carlos III, Madrid, Spain</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Palau, Francesc" sort="Palau, Francesc" uniqKey="Palau F" first="Francesc" last="Palau">Francesc Palau</name>
<affiliation>
<mods:affiliation>Unit of Genetics, Hospital la Fe, Valencia, Spain</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Lindvall, Bjorn" sort="Lindvall, Bjorn" uniqKey="Lindvall B" first="Björn" last="Lindvall">Björn Lindvall</name>
<affiliation>
<mods:affiliation>Muskelcentrum, Dep of Neurology, Örebro, USÖ, Sweden</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Bloetzer, Clemens" sort="Bloetzer, Clemens" uniqKey="Bloetzer C" first="Clemens" last="Bloetzer">Clemens Bloetzer</name>
<affiliation>
<mods:affiliation>Paediatric Neurology and Neurorehabilitation Unit, Lausanne University Hospital, Lausanne, Switzerland</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Karaduman, Ay E" sort="Karaduman, Ay E" uniqKey="Karaduman A" first="Ay E" last="Karaduman">Ay E Karaduman</name>
<affiliation>
<mods:affiliation>Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation, Ankara, Altındağ, Turkey</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Topalo Lu, Haluk" sort="Topalo Lu, Haluk" uniqKey="Topalo Lu H" first="Haluk" last="Topalo Lu">Haluk Topalo Lu</name>
<affiliation>
<mods:affiliation>Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation, Ankara, Altındağ, Turkey</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Inal, Serap" sort="Inal, Serap" uniqKey="Inal S" first="Serap" last="Inal">Serap Inal</name>
<affiliation>
<mods:affiliation>Istanbul University Faculty of Medicine, Neurology Department, PTR Unit, Istanbul, Turkey</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Oflazer, Piraye" sort="Oflazer, Piraye" uniqKey="Oflazer P" first="Piraye" last="Oflazer">Piraye Oflazer</name>
<affiliation>
<mods:affiliation>Istanbul University Faculty of Medicine, Neurology Department, PTR Unit, Istanbul, Turkey</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Stringer, Angela" sort="Stringer, Angela" uniqKey="Stringer A" first="Angela" last="Stringer">Angela Stringer</name>
<affiliation>
<mods:affiliation>Action Duchenne, Epicentre, London, UK</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Shatillo, Andriy V" sort="Shatillo, Andriy V" uniqKey="Shatillo A" first="Andriy V." last="Shatillo">Andriy V. Shatillo</name>
<affiliation>
<mods:affiliation>Institute of Neurology, Psychiatry and Narcology of NAMS, Kharkiv, Ukraine</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Martin, Ann S" sort="Martin, Ann S" uniqKey="Martin A" first="Ann S." last="Martin">Ann S. Martin</name>
<affiliation>
<mods:affiliation>DuchenneConnect, New Jersey, Hackensack</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Peay, Holly" sort="Peay, Holly" uniqKey="Peay H" first="Holly" last="Peay">Holly Peay</name>
<affiliation>
<mods:affiliation>DuchenneConnect, New Jersey, Hackensack</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Flanigan, Kevin M" sort="Flanigan, Kevin M" uniqKey="Flanigan K" first="Kevin M." last="Flanigan">Kevin M. Flanigan</name>
<affiliation>
<mods:affiliation>The Ohio State University, and Nationwide Children's Hospital, Ohio, Columbus</mods:affiliation>
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</author>
<author>
<name sortKey="Salgado, David" sort="Salgado, David" uniqKey="Salgado D" first="David" last="Salgado">David Salgado</name>
<affiliation>
<mods:affiliation>INSERM UMR_S910, Aix‐Marseille UniversitéFaculté de Médecine La Timone, Marseille Cedex, France</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>Australian Regenerative Medicine Institute, EMBL‐Australia, Monash University, Clayton Campus</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Von Rekowski, Brigitta" sort="Von Rekowski, Brigitta" uniqKey="Von Rekowski B" first="Brigitta" last="Von Rekowski">Brigitta Von Rekowski</name>
<affiliation>
<mods:affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Lynn, Stephen" sort="Lynn, Stephen" uniqKey="Lynn S" first="Stephen" last="Lynn">Stephen Lynn</name>
<affiliation>
<mods:affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Heslop, Emma" sort="Heslop, Emma" uniqKey="Heslop E" first="Emma" last="Heslop">Emma Heslop</name>
<affiliation>
<mods:affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Gainotti, Sabina" sort="Gainotti, Sabina" uniqKey="Gainotti S" first="Sabina" last="Gainotti">Sabina Gainotti</name>
<affiliation>
<mods:affiliation>National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Taruscio, Domenica" sort="Taruscio, Domenica" uniqKey="Taruscio D" first="Domenica" last="Taruscio">Domenica Taruscio</name>
<affiliation>
<mods:affiliation>National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Kirschner, Jan" sort="Kirschner, Jan" uniqKey="Kirschner J" first="Jan" last="Kirschner">Jan Kirschner</name>
<affiliation>
<mods:affiliation>University Medical Center, Freiburg, Germany</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Verschuuren, Jan" sort="Verschuuren, Jan" uniqKey="Verschuuren J" first="Jan" last="Verschuuren">Jan Verschuuren</name>
<affiliation>
<mods:affiliation>Leiden University Medical Center, Department of Neurology, ZA, Leiden, The Netherlands</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Bushby, Kate" sort="Bushby, Kate" uniqKey="Bushby K" first="Kate" last="Bushby">Kate Bushby</name>
<affiliation>
<mods:affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Béroud">Christophe Béroud</name>
<affiliation>
<mods:affiliation>INSERM UMR_S910, Aix‐Marseille UniversitéFaculté de Médecine La Timone, Marseille Cedex, France</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name>
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<mods:affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>E-mail: hanns.lochmuller@ncl.ac.uk</mods:affiliation>
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<title level="j" type="main">Human Mutation</title>
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<term>Data providers</term>
<term>Data sets</term>
<term>Database</term>
<term>Different countries</term>
<term>Disease registry</term>
<term>Disease surveillance</term>
<term>Duchenne</term>
<term>Duchenne patients</term>
<term>Dystrophy</term>
<term>Dystrophy patients</term>
<term>Enquiry</term>
<term>Epidemiological research</term>
<term>Exon</term>
<term>External experts</term>
<term>Family history</term>
<term>Feasibility</term>
<term>Feasibility studies</term>
<term>Filippo buccella</term>
<term>Funding</term>
<term>Genetic diagnosis</term>
<term>Genetic disease</term>
<term>Genetic medicine</term>
<term>Global</term>
<term>Global registry</term>
<term>Hanns lochmuller</term>
<term>Harmonized</term>
<term>Healthcare research</term>
<term>Healthcare services planning</term>
<term>Human mutation</term>
<term>Individual countries</term>
<term>Industrial partners</term>
<term>Initial funding</term>
<term>Initial funding period</term>
<term>Internal registry staff</term>
<term>International level</term>
<term>Janbernd kirschner</term>
<term>Japanese duchenne</term>
<term>Kevin flanigan</term>
<term>Leiden university</term>
<term>Molecular diagnosis</term>
<term>Muscle biopsy</term>
<term>Muscular dystrophy</term>
<term>Mutation</term>
<term>Mutation data collection</term>
<term>National centre</term>
<term>National level</term>
<term>National registries</term>
<term>National registry</term>
<term>Natural history</term>
<term>Natural history surveys</term>
<term>Neurology</term>
<term>Neuromuscul disord</term>
<term>Neuromuscular</term>
<term>Neuromuscular diseases</term>
<term>Novel japanese</term>
<term>Original registries</term>
<term>Outcome measures</term>
<term>Oversight committee</term>
<term>Paediatric neurology</term>
<term>Patient advocacy groups</term>
<term>Patient care</term>
<term>Patient demographics</term>
<term>Patient information</term>
<term>Patient organizations</term>
<term>Patient population</term>
<term>Patient registries</term>
<term>Patient registry</term>
<term>Patient representatives</term>
<term>Peking union</term>
<term>Quality control</term>
<term>Rare disease</term>
<term>Rare diseases</term>
<term>Recruitment enquiry</term>
<term>Registry</term>
<term>Registry curators</term>
<term>Research environment</term>
<term>Social planning</term>
<term>Surveillance registries</term>
<term>Third party approaches</term>
<term>Thomas sejersen</term>
<term>Trial site registry</term>
<term>Turku university</term>
<term>Western australia</term>
<term>Wider community</term>
<term>Wiley periodicals</term>
</keywords>
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<term>Action duchenne</term>
<term>Annual funding</term>
<term>Bushby</term>
<term>Centre</term>
<term>Clinical outcomes</term>
<term>Clinical research</term>
<term>Clinical trial activities</term>
<term>Clinical trial participation</term>
<term>Clinical trials</term>
<term>Critical analysis</term>
<term>Czech republic</term>
<term>Data providers</term>
<term>Data sets</term>
<term>Database</term>
<term>Different countries</term>
<term>Disease registry</term>
<term>Disease surveillance</term>
<term>Duchenne</term>
<term>Duchenne patients</term>
<term>Dystrophy</term>
<term>Dystrophy patients</term>
<term>Enquiry</term>
<term>Epidemiological research</term>
<term>Exon</term>
<term>External experts</term>
<term>Family history</term>
<term>Feasibility</term>
<term>Feasibility studies</term>
<term>Filippo buccella</term>
<term>Funding</term>
<term>Genetic diagnosis</term>
<term>Genetic disease</term>
<term>Genetic medicine</term>
<term>Global</term>
<term>Global registry</term>
<term>Hanns lochmuller</term>
<term>Harmonized</term>
<term>Healthcare research</term>
<term>Healthcare services planning</term>
<term>Human mutation</term>
<term>Individual countries</term>
<term>Industrial partners</term>
<term>Initial funding</term>
<term>Initial funding period</term>
<term>Internal registry staff</term>
<term>International level</term>
<term>Janbernd kirschner</term>
<term>Japanese duchenne</term>
<term>Kevin flanigan</term>
<term>Leiden university</term>
<term>Molecular diagnosis</term>
<term>Muscle biopsy</term>
<term>Muscular dystrophy</term>
<term>Mutation</term>
<term>Mutation data collection</term>
<term>National centre</term>
<term>National level</term>
<term>National registries</term>
<term>National registry</term>
<term>Natural history</term>
<term>Natural history surveys</term>
<term>Neurology</term>
<term>Neuromuscul disord</term>
<term>Neuromuscular</term>
<term>Neuromuscular diseases</term>
<term>Novel japanese</term>
<term>Original registries</term>
<term>Outcome measures</term>
<term>Oversight committee</term>
<term>Paediatric neurology</term>
<term>Patient advocacy groups</term>
<term>Patient care</term>
<term>Patient demographics</term>
<term>Patient information</term>
<term>Patient organizations</term>
<term>Patient population</term>
<term>Patient registries</term>
<term>Patient registry</term>
<term>Patient representatives</term>
<term>Peking union</term>
<term>Quality control</term>
<term>Rare disease</term>
<term>Rare diseases</term>
<term>Recruitment enquiry</term>
<term>Registry</term>
<term>Registry curators</term>
<term>Research environment</term>
<term>Social planning</term>
<term>Surveillance registries</term>
<term>Third party approaches</term>
<term>Thomas sejersen</term>
<term>Trial site registry</term>
<term>Turku university</term>
<term>Western australia</term>
<term>Wider community</term>
<term>Wiley periodicals</term>
</keywords>
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</teiHeader>
<front>
<div type="abstract">Duchenne muscular dystrophy (DMD) is an X‐linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence <5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes. TREAT‐NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT‐NMD. For the DMD registries within TREAT‐NMD, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here, we describe how the TREAT‐NMD national patient registries for DMD were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.</div>
</front>
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<author>
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<name>Catherine L. Bladen</name>
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<json:string>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</json:string>
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<json:item>
<name>Karen Rafferty</name>
<affiliations>
<json:string>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</json:string>
</affiliations>
</json:item>
<json:item>
<name>Volker Straub</name>
<affiliations>
<json:string>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</json:string>
</affiliations>
</json:item>
<json:item>
<name>Soledad Monges</name>
<affiliations>
<json:string>Hospital Pediatría J. P. Garrahan, Argentina</json:string>
</affiliations>
</json:item>
<json:item>
<name>Angélica Moresco</name>
<affiliations>
<json:string>Hospital Pediatría J. P. Garrahan, Argentina</json:string>
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</json:item>
<json:item>
<name>Hugh Dawkins</name>
<affiliations>
<json:string>Office of Population Health Genomics, Department of Health, 189 Royal Street, Level 3C Western Australia, Australia</json:string>
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</json:item>
<json:item>
<name>Anna Roy</name>
<affiliations>
<json:string>WIV‐ISP, Brussels, Belgium</json:string>
</affiliations>
</json:item>
<json:item>
<name>Teodora Chamova</name>
<affiliations>
<json:string>Department of Neurology, Medical University‐Sofia, Sofia, Bulgaria</json:string>
</affiliations>
</json:item>
<json:item>
<name>Velina Guergueltcheva</name>
<affiliations>
<json:string>Department of Neurology, Medical University‐Sofia, Sofia, Bulgaria</json:string>
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</json:item>
<json:item>
<name>Lawrence Korngut</name>
<affiliations>
<json:string>University of Calgary, Health Sciences Centre, NW Calgary, Alberta, Canada</json:string>
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</json:item>
<json:item>
<name>Craig Campbell</name>
<affiliations>
<json:string>Department of Paediatrics, Clinical Neurological Sciences and Epidemiology, Western University, London, Ontario, Canada</json:string>
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</json:item>
<json:item>
<name>Yi Dai</name>
<affiliations>
<json:string>Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China</json:string>
</affiliations>
</json:item>
<json:item>
<name>Nina Barišić</name>
<affiliations>
<json:string>Division of Paediatric Neurology, University Hospital Centre Zagreb (KBC Zagreb), University of Zagreb Medical School, Zagreb, Croatia</json:string>
</affiliations>
</json:item>
<json:item>
<name>Tea Kos</name>
<affiliations>
<json:string>Division of Paediatric Neurology, University Hospital Centre Zagreb (KBC Zagreb), University of Zagreb Medical School, Zagreb, Croatia</json:string>
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</json:item>
<json:item>
<name>Petr Brabec</name>
<affiliations>
<json:string>Institute for Biostatistics and Analyses, Masaryk University, Brno, Czech Republic</json:string>
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</json:item>
<json:item>
<name>Jes Rahbek</name>
<affiliations>
<json:string>National Danish Rehabilitation Centre for Neuromuscular Diseases, Aarhus, Denmark</json:string>
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</json:item>
<json:item>
<name>Jaana Lahdetie</name>
<affiliations>
<json:string>Turku University Central Hospital, Turku, Finland</json:string>
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</json:item>
<json:item>
<name>Sylvie Tuffery‐Giraud</name>
<affiliations>
<json:string>Laboratoire de Génétique de Maladies Rares, Université Montpellier 1 and Inserm U827, Montpellier, France</json:string>
</affiliations>
</json:item>
<json:item>
<name>Mireille Claustres</name>
<affiliations>
<json:string>Laboratoire de Génétique de Maladies Rares, Université Montpellier 1 and Inserm U827, Montpellier, France</json:string>
</affiliations>
</json:item>
<json:item>
<name>France Leturcq</name>
<affiliations>
<json:string>Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Paris, France</json:string>
</affiliations>
</json:item>
<json:item>
<name>Rabah Ben Yaou</name>
<affiliations>
<json:string>Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Paris, France</json:string>
</affiliations>
</json:item>
<json:item>
<name>Maggie C. Walter</name>
<affiliations>
<json:string>Friedrich‐Baur‐Institute, Department of Neurology, Ludwig‐Maximilians‐University of Munich, Munich, Germany</json:string>
</affiliations>
</json:item>
<json:item>
<name>Olivia Schreiber</name>
<affiliations>
<json:string>Friedrich‐Baur‐Institute, Department of Neurology, Ludwig‐Maximilians‐University of Munich, Munich, Germany</json:string>
</affiliations>
</json:item>
<json:item>
<name>Veronika Karcagi</name>
<affiliations>
<json:string>NIEH, Molecular Genetic Department, Budapest, Hungary</json:string>
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</json:item>
<json:item>
<name>Agnes Herczegfalvi</name>
<affiliations>
<json:string>NIEH, Molecular Genetic Department, Budapest, Hungary</json:string>
</affiliations>
</json:item>
<json:item>
<name>Venkatarman Viswanathan</name>
<affiliations>
<json:string>Kanchi Kamakoti CHILDS Trust Hospital, Nungambakkam, Chennai, India</json:string>
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</json:item>
<json:item>
<name>Farhad Bayat</name>
<affiliations>
<json:string>Pasteur Institute of Iran, Karaj Complex, Tehran, Iran</json:string>
</affiliations>
</json:item>
<json:item>
<name>Isis de la caridad Guerrero Sarmiento</name>
<affiliations>
<json:string>Pasteur Institute of Iran, Karaj Complex, Tehran, Iran</json:string>
</affiliations>
</json:item>
<json:item>
<name>Anna Ambrosini</name>
<affiliations>
<json:string>Fondazione Telethon‐Piazza Cavour 1, Milan, Italy</json:string>
</affiliations>
</json:item>
<json:item>
<name>Francesca Ceradini</name>
<affiliations>
<json:string>Parent Project Onlus, Via Aurelia 1299 Roma, Italy</json:string>
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</json:item>
<json:item>
<name>En Kimura</name>
<affiliations>
<json:string>Translational Medical Centre, National Centre of Neurology and Psychiatry, 4‐1‐1 Ogawa‐Higashi, Kodaira, Tokyo 187‐8551, Japan</json:string>
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</json:item>
<json:item>
<name>Janneke C. van den Bergen</name>
<affiliations>
<json:string>Leiden University Medical Center, Department of Neurology, ZA, Leiden, The Netherlands</json:string>
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</json:item>
<json:item>
<name>Miriam Rodrigues</name>
<affiliations>
<json:string>Neurology, Auckland City Hospital, Auckland, New Zealand</json:string>
</affiliations>
</json:item>
<json:item>
<name>Richard Roxburgh</name>
<affiliations>
<json:string>Neurology, Auckland City Hospital, Auckland, New Zealand</json:string>
</affiliations>
</json:item>
<json:item>
<name>Anna Lusakowska</name>
<affiliations>
<json:string>Department of Neurology, Warszawa Banacha 1a, Poland</json:string>
</affiliations>
</json:item>
<json:item>
<name>Jorge Oliveira</name>
<affiliations>
<json:string>Centro de Genética Médica Jacinto Magalhães, Porto, Portugal</json:string>
</affiliations>
</json:item>
<json:item>
<name>Rosário Santos</name>
<affiliations>
<json:string>Centro de Genética Médica Jacinto Magalhães, Porto, Portugal</json:string>
</affiliations>
</json:item>
<json:item>
<name>Elena Neagu</name>
<affiliations>
<json:string>Pediatric Neurology Department, Hospital Al. Obregia, Bucharest, Romania</json:string>
</affiliations>
</json:item>
<json:item>
<name>Niculina Butoianu</name>
<affiliations>
<json:string>Pediatric Neurology Department, Hospital Al. Obregia, Bucharest, Romania</json:string>
</affiliations>
</json:item>
<json:item>
<name>Svetlana Artemieva</name>
<affiliations>
<json:string>Rublevskoe shosse, Moscow, Russia</json:string>
</affiliations>
</json:item>
<json:item>
<name>Vedrana Milic Rasic</name>
<affiliations>
<json:string>Clinic for Child Neurology and Psychiatry, Belgrade, Serbia</json:string>
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</json:item>
<json:item>
<name>Manuel Posada</name>
<affiliations>
<json:string>Institute of Rare Diseases Research, Institute of Health Carlos III, Madrid, Spain</json:string>
</affiliations>
</json:item>
<json:item>
<name>Francesc Palau</name>
<affiliations>
<json:string>Unit of Genetics, Hospital la Fe, Valencia, Spain</json:string>
</affiliations>
</json:item>
<json:item>
<name>Björn Lindvall</name>
<affiliations>
<json:string>Muskelcentrum, Dep of Neurology, Örebro, USÖ, Sweden</json:string>
</affiliations>
</json:item>
<json:item>
<name>Clemens Bloetzer</name>
<affiliations>
<json:string>Paediatric Neurology and Neurorehabilitation Unit, Lausanne University Hospital, Lausanne, Switzerland</json:string>
</affiliations>
</json:item>
<json:item>
<name>Ayşe Karaduman</name>
<affiliations>
<json:string>Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation, Ankara, Altındağ, Turkey</json:string>
</affiliations>
</json:item>
<json:item>
<name>Haluk Topaloğlu</name>
<affiliations>
<json:string>Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation, Ankara, Altındağ, Turkey</json:string>
</affiliations>
</json:item>
<json:item>
<name>Serap Inal</name>
<affiliations>
<json:string>Istanbul University Faculty of Medicine, Neurology Department, PTR Unit, Istanbul, Turkey</json:string>
</affiliations>
</json:item>
<json:item>
<name>Piraye Oflazer</name>
<affiliations>
<json:string>Istanbul University Faculty of Medicine, Neurology Department, PTR Unit, Istanbul, Turkey</json:string>
</affiliations>
</json:item>
<json:item>
<name>Angela Stringer</name>
<affiliations>
<json:string>Action Duchenne, Epicentre, London, UK</json:string>
</affiliations>
</json:item>
<json:item>
<name>Andriy V. Shatillo</name>
<affiliations>
<json:string>Institute of Neurology, Psychiatry and Narcology of NAMS, Kharkiv, Ukraine</json:string>
</affiliations>
</json:item>
<json:item>
<name>Ann S. Martin</name>
<affiliations>
<json:string>DuchenneConnect, New Jersey, Hackensack</json:string>
</affiliations>
</json:item>
<json:item>
<name>Holly Peay</name>
<affiliations>
<json:string>DuchenneConnect, New Jersey, Hackensack</json:string>
</affiliations>
</json:item>
<json:item>
<name>Kevin M. Flanigan</name>
<affiliations>
<json:string>The Ohio State University, and Nationwide Children's Hospital, Ohio, Columbus</json:string>
</affiliations>
</json:item>
<json:item>
<name>David Salgado</name>
<affiliations>
<json:string>INSERM UMR_S910, Aix‐Marseille UniversitéFaculté de Médecine La Timone, Marseille Cedex, France</json:string>
<json:string>Australian Regenerative Medicine Institute, EMBL‐Australia, Monash University, Clayton Campus</json:string>
</affiliations>
</json:item>
<json:item>
<name>Brigitta von Rekowski</name>
<affiliations>
<json:string>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</json:string>
</affiliations>
</json:item>
<json:item>
<name>Stephen Lynn</name>
<affiliations>
<json:string>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</json:string>
</affiliations>
</json:item>
<json:item>
<name>Emma Heslop</name>
<affiliations>
<json:string>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</json:string>
</affiliations>
</json:item>
<json:item>
<name>Sabina Gainotti</name>
<affiliations>
<json:string>National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy</json:string>
</affiliations>
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<author xml:id="author-0013">
<persName>
<forename type="first">Tea</forename>
<surname>Kos</surname>
</persName>
<affiliation>
<orgName>Division of Paediatric Neurology</orgName>
<orgName>University Hospital Centre Zagreb (KBC Zagreb), University of Zagreb Medical School</orgName>
<address>
<settlement type="city">Zagreb</settlement>
<country key="HR">Croatia</country>
</address>
</affiliation>
</author>
<author xml:id="author-0014">
<persName>
<forename type="first">Petr</forename>
<surname>Brabec</surname>
</persName>
<affiliation>
<orgName>Institute for Biostatistics and Analyses</orgName>
<orgName>Masaryk University</orgName>
<address>
<settlement type="city">Brno</settlement>
<country key="CZ">Czech Republic</country>
</address>
</affiliation>
</author>
<author xml:id="author-0015">
<persName>
<forename type="first">Jes</forename>
<surname>Rahbek</surname>
</persName>
<affiliation>
<orgName>National Danish Rehabilitation Centre for Neuromuscular Diseases</orgName>
<address>
<settlement type="city">Aarhus</settlement>
<country key="DK">Denmark</country>
</address>
</affiliation>
</author>
<author xml:id="author-0016">
<persName>
<forename type="first">Jaana</forename>
<surname>Lahdetie</surname>
</persName>
<affiliation>
<orgName>Turku University Central Hospital</orgName>
<address>
<settlement type="city">Turku</settlement>
<country key="FI">Finland</country>
</address>
</affiliation>
</author>
<author xml:id="author-0017">
<persName>
<forename type="first">Sylvie</forename>
<surname>Tuffery‐Giraud</surname>
</persName>
<affiliation>
<orgName>Laboratoire de Génétique de Maladies Rares</orgName>
<orgName>Université Montpellier 1 and Inserm U827</orgName>
<address>
<settlement type="city">Montpellier</settlement>
<country key="FR">France</country>
</address>
</affiliation>
</author>
<author xml:id="author-0018">
<persName>
<forename type="first">Mireille</forename>
<surname>Claustres</surname>
</persName>
<affiliation>
<orgName>Laboratoire de Génétique de Maladies Rares</orgName>
<orgName>Université Montpellier 1 and Inserm U827</orgName>
<address>
<settlement type="city">Montpellier</settlement>
<country key="FR">France</country>
</address>
</affiliation>
</author>
<author xml:id="author-0019">
<persName>
<forename type="first">France</forename>
<surname>Leturcq</surname>
</persName>
<affiliation>
<orgName>Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin</orgName>
<address>
<settlement type="city">Paris</settlement>
<country key="FR">France</country>
</address>
</affiliation>
</author>
<author xml:id="author-0020">
<persName>
<forename type="first">Rabah</forename>
<surname>Ben Yaou</surname>
</persName>
<affiliation>
<orgName>Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin</orgName>
<address>
<settlement type="city">Paris</settlement>
<country key="FR">France</country>
</address>
</affiliation>
</author>
<author xml:id="author-0021">
<persName>
<forename type="first">Maggie C.</forename>
<surname>Walter</surname>
</persName>
<affiliation>
<orgName>Friedrich‐Baur‐Institute, Department of Neurology</orgName>
<orgName>Ludwig‐Maximilians‐University of Munich</orgName>
<address>
<settlement type="city">Munich</settlement>
<country key="DE">Germany</country>
</address>
</affiliation>
</author>
<author xml:id="author-0022">
<persName>
<forename type="first">Olivia</forename>
<surname>Schreiber</surname>
</persName>
<affiliation>
<orgName>Friedrich‐Baur‐Institute, Department of Neurology</orgName>
<orgName>Ludwig‐Maximilians‐University of Munich</orgName>
<address>
<settlement type="city">Munich</settlement>
<country key="DE">Germany</country>
</address>
</affiliation>
</author>
<author xml:id="author-0023">
<persName>
<forename type="first">Veronika</forename>
<surname>Karcagi</surname>
</persName>
<affiliation>
<orgName>NIEH, Molecular Genetic Department</orgName>
<address>
<settlement type="city">Budapest</settlement>
<country key="HU">Hungary</country>
</address>
</affiliation>
</author>
<author xml:id="author-0024">
<persName>
<forename type="first">Agnes</forename>
<surname>Herczegfalvi</surname>
</persName>
<affiliation>
<orgName>NIEH, Molecular Genetic Department</orgName>
<address>
<settlement type="city">Budapest</settlement>
<country key="HU">Hungary</country>
</address>
</affiliation>
</author>
<author xml:id="author-0025">
<persName>
<forename type="first">Venkatarman</forename>
<surname>Viswanathan</surname>
</persName>
<affiliation>
<orgName>Kanchi Kamakoti CHILDS Trust Hospital</orgName>
<orgName>Nungambakkam</orgName>
<address>
<settlement type="city">Chennai</settlement>
<country key="IN">India</country>
</address>
</affiliation>
</author>
<author xml:id="author-0026">
<persName>
<forename type="first">Farhad</forename>
<surname>Bayat</surname>
</persName>
<affiliation>
<orgName>Pasteur Institute of Iran</orgName>
<orgName>Karaj Complex</orgName>
<address>
<settlement type="city">Tehran</settlement>
<country key="IR">Iran</country>
</address>
</affiliation>
</author>
<author xml:id="author-0027">
<persName>
<forename type="first">Isis</forename>
<surname>Guerrero Sarmiento</surname>
</persName>
<affiliation>
<orgName>Pasteur Institute of Iran</orgName>
<orgName>Karaj Complex</orgName>
<address>
<settlement type="city">Tehran</settlement>
<country key="IR">Iran</country>
</address>
</affiliation>
</author>
<author xml:id="author-0028">
<persName>
<forename type="first">Anna</forename>
<surname>Ambrosini</surname>
</persName>
<affiliation>
<orgName>Fondazione Telethon‐Piazza Cavour 1</orgName>
<address>
<settlement type="city">Milan</settlement>
<country key="IT">Italy</country>
</address>
</affiliation>
</author>
<author xml:id="author-0029">
<persName>
<forename type="first">Francesca</forename>
<surname>Ceradini</surname>
</persName>
<affiliation>
<orgName>Parent Project Onlus</orgName>
<address>
<settlement type="city">Via Aurelia 1299 Roma</settlement>
<country key="IT">Italy</country>
</address>
</affiliation>
</author>
<author xml:id="author-0030">
<persName>
<forename type="first">En</forename>
<surname>Kimura</surname>
</persName>
<affiliation>
<orgName>Translational Medical Centre</orgName>
<orgName>National Centre of Neurology and Psychiatry</orgName>
<address>
<street>4‐1‐1 Ogawa‐Higashi, Kodaira</street>
<settlement type="city">Tokyo 187‐8551</settlement>
<country key="JP">Japan</country>
</address>
</affiliation>
</author>
<author xml:id="author-0031">
<persName>
<forename type="first">Janneke C.</forename>
<surname>den Bergen</surname>
</persName>
<affiliation>
<orgName>Leiden University Medical Center</orgName>
<orgName>Department of Neurology</orgName>
<address>
<settlement type="city">Leiden</settlement>
<region>ZA</region>
<country key="NL">The Netherlands</country>
</address>
</affiliation>
</author>
<author xml:id="author-0032">
<persName>
<forename type="first">Miriam</forename>
<surname>Rodrigues</surname>
</persName>
<affiliation>
<orgName>Neurology</orgName>
<orgName>Auckland City Hospital</orgName>
<address>
<settlement type="city">Auckland</settlement>
<country key="NZ">New Zealand</country>
</address>
</affiliation>
</author>
<author xml:id="author-0033">
<persName>
<forename type="first">Richard</forename>
<surname>Roxburgh</surname>
</persName>
<affiliation>
<orgName>Neurology</orgName>
<orgName>Auckland City Hospital</orgName>
<address>
<settlement type="city">Auckland</settlement>
<country key="NZ">New Zealand</country>
</address>
</affiliation>
</author>
<author xml:id="author-0034">
<persName>
<forename type="first">Anna</forename>
<surname>Lusakowska</surname>
</persName>
<affiliation>
<orgName>Department of Neurology</orgName>
<orgName>Warszawa Banacha 1a</orgName>
<address>
<country key="PL">Poland</country>
</address>
</affiliation>
</author>
<author xml:id="author-0035">
<persName>
<forename type="first">Jorge</forename>
<surname>Oliveira</surname>
</persName>
<affiliation>
<orgName>Centro de Genética Médica Jacinto Magalhães</orgName>
<address>
<settlement type="city">Porto</settlement>
<country key="PT">Portugal</country>
</address>
</affiliation>
</author>
<author xml:id="author-0036">
<persName>
<forename type="first">Rosário</forename>
<surname>Santos</surname>
</persName>
<affiliation>
<orgName>Centro de Genética Médica Jacinto Magalhães</orgName>
<address>
<settlement type="city">Porto</settlement>
<country key="PT">Portugal</country>
</address>
</affiliation>
</author>
<author xml:id="author-0037">
<persName>
<forename type="first">Elena</forename>
<surname>Neagu</surname>
</persName>
<affiliation>
<orgName>Pediatric Neurology Department</orgName>
<orgName>Hospital Al. Obregia</orgName>
<address>
<settlement type="city">Bucharest</settlement>
<country key="RO">Romania</country>
</address>
</affiliation>
</author>
<author xml:id="author-0038">
<persName>
<forename type="first">Niculina</forename>
<surname>Butoianu</surname>
</persName>
<affiliation>
<orgName>Pediatric Neurology Department</orgName>
<orgName>Hospital Al. Obregia</orgName>
<address>
<settlement type="city">Bucharest</settlement>
<country key="RO">Romania</country>
</address>
</affiliation>
</author>
<author xml:id="author-0039">
<persName>
<forename type="first">Svetlana</forename>
<surname>Artemieva</surname>
</persName>
<affiliation>
<orgName>Rublevskoe shosse</orgName>
<address>
<settlement type="city">Moscow</settlement>
<country key="RU">Russia</country>
</address>
</affiliation>
</author>
<author xml:id="author-0040">
<persName>
<forename type="first">Vedrana Milic</forename>
<surname>Rasic</surname>
</persName>
<affiliation>
<orgName>Clinic for Child Neurology and Psychiatry</orgName>
<address>
<settlement type="city">Belgrade</settlement>
<country key="RS">Serbia</country>
</address>
</affiliation>
</author>
<author xml:id="author-0041">
<persName>
<forename type="first">Manuel</forename>
<surname>Posada</surname>
</persName>
<affiliation>
<orgName>Institute of Rare Diseases Research</orgName>
<orgName>Institute of Health Carlos III</orgName>
<address>
<settlement type="city">Madrid</settlement>
<country key="ES">Spain</country>
</address>
</affiliation>
</author>
<author xml:id="author-0042">
<persName>
<forename type="first">Francesc</forename>
<surname>Palau</surname>
</persName>
<affiliation>
<orgName>Unit of Genetics</orgName>
<orgName>Hospital la Fe</orgName>
<address>
<settlement type="city">Valencia</settlement>
<country key="ES">Spain</country>
</address>
</affiliation>
</author>
<author xml:id="author-0043">
<persName>
<forename type="first">Björn</forename>
<surname>Lindvall</surname>
</persName>
<affiliation>
<orgName>Muskelcentrum</orgName>
<orgName>Dep of Neurology</orgName>
<address>
<settlement type="city">USÖ</settlement>
<region>Örebro</region>
<country key="SE">Sweden</country>
</address>
</affiliation>
</author>
<author xml:id="author-0044">
<persName>
<forename type="first">Clemens</forename>
<surname>Bloetzer</surname>
</persName>
<affiliation>
<orgName>Paediatric Neurology and Neurorehabilitation Unit</orgName>
<orgName>Lausanne University Hospital</orgName>
<address>
<settlement type="city">Lausanne</settlement>
<country key="CH">Switzerland</country>
</address>
</affiliation>
</author>
<author xml:id="author-0045">
<persName>
<forename type="first">Ayşe</forename>
<surname>Karaduman</surname>
</persName>
<affiliation>
<orgName>Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation</orgName>
<address>
<settlement type="city">Altındağ</settlement>
<region>Ankara</region>
<country key="TR">Turkey</country>
</address>
</affiliation>
</author>
<author xml:id="author-0046">
<persName>
<forename type="first">Haluk</forename>
<surname>Topaloğlu</surname>
</persName>
<affiliation>
<orgName>Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation</orgName>
<address>
<settlement type="city">Altındağ</settlement>
<region>Ankara</region>
<country key="TR">Turkey</country>
</address>
</affiliation>
</author>
<author xml:id="author-0047">
<persName>
<forename type="first">Serap</forename>
<surname>Inal</surname>
</persName>
<affiliation>
<orgName>Istanbul University Faculty of Medicine</orgName>
<orgName>Neurology Department</orgName>
<address>
<settlement type="city">PTR Unit, Istanbul</settlement>
<country key="TR">Turkey</country>
</address>
</affiliation>
</author>
<author xml:id="author-0048">
<persName>
<forename type="first">Piraye</forename>
<surname>Oflazer</surname>
</persName>
<affiliation>
<orgName>Istanbul University Faculty of Medicine</orgName>
<orgName>Neurology Department</orgName>
<address>
<settlement type="city">PTR Unit, Istanbul</settlement>
<country key="TR">Turkey</country>
</address>
</affiliation>
</author>
<author xml:id="author-0049">
<persName>
<forename type="first">Angela</forename>
<surname>Stringer</surname>
</persName>
<affiliation>
<orgName>Action Duchenne</orgName>
<orgName>Epicentre</orgName>
<address>
<settlement type="city">London</settlement>
<country key="GB">UK</country>
</address>
</affiliation>
</author>
<author xml:id="author-0050">
<persName>
<forename type="first">Andriy V.</forename>
<surname>Shatillo</surname>
</persName>
<affiliation>
<orgName>Institute of Neurology</orgName>
<orgName>Psychiatry and Narcology of NAMS</orgName>
<address>
<settlement type="city">Kharkiv</settlement>
<country key="UA">Ukraine</country>
</address>
</affiliation>
</author>
<author xml:id="author-0051">
<persName>
<forename type="first">Ann S.</forename>
<surname>Martin</surname>
</persName>
<affiliation>
<orgName>DuchenneConnect</orgName>
<address>
<settlement type="city">Hackensack</settlement>
<region>New Jersey</region>
</address>
</affiliation>
</author>
<author xml:id="author-0052">
<persName>
<forename type="first">Holly</forename>
<surname>Peay</surname>
</persName>
<affiliation>
<orgName>DuchenneConnect</orgName>
<address>
<settlement type="city">Hackensack</settlement>
<region>New Jersey</region>
</address>
</affiliation>
</author>
<author xml:id="author-0053">
<persName>
<forename type="first">Kevin M.</forename>
<surname>Flanigan</surname>
</persName>
<affiliation>
<orgName>The Ohio State University</orgName>
<orgName>and Nationwide Children's Hospital</orgName>
<address>
<settlement type="city">Columbus</settlement>
<region>Ohio</region>
</address>
</affiliation>
</author>
<author xml:id="author-0054">
<persName>
<forename type="first">David</forename>
<surname>Salgado</surname>
</persName>
<affiliation>
<orgName>INSERM UMR_S910</orgName>
<orgName>Aix‐Marseille UniversitéFaculté de Médecine La Timone</orgName>
<address>
<settlement type="city">Marseille Cedex</settlement>
<country key="FR">France</country>
</address>
</affiliation>
<affiliation>
<orgName>Australian Regenerative Medicine Institute</orgName>
<orgName>EMBL‐Australia, Monash University, Clayton Campus</orgName>
</affiliation>
</author>
<author xml:id="author-0055">
<persName>
<forename type="first">Brigitta</forename>
<surname>Rekowski</surname>
</persName>
<affiliation>
<orgName>MRC Centre for Neuromuscular Diseases at Newcastle</orgName>
<orgName>Institute of Genetic Medicine, Newcastle upon Tyne</orgName>
<address>
<country key="GB">UK</country>
</address>
</affiliation>
</author>
<author xml:id="author-0056">
<persName>
<forename type="first">Stephen</forename>
<surname>Lynn</surname>
</persName>
<affiliation>
<orgName>MRC Centre for Neuromuscular Diseases at Newcastle</orgName>
<orgName>Institute of Genetic Medicine, Newcastle upon Tyne</orgName>
<address>
<country key="GB">UK</country>
</address>
</affiliation>
</author>
<author xml:id="author-0057">
<persName>
<forename type="first">Emma</forename>
<surname>Heslop</surname>
</persName>
<affiliation>
<orgName>MRC Centre for Neuromuscular Diseases at Newcastle</orgName>
<orgName>Institute of Genetic Medicine, Newcastle upon Tyne</orgName>
<address>
<country key="GB">UK</country>
</address>
</affiliation>
</author>
<author xml:id="author-0058">
<persName>
<forename type="first">Sabina</forename>
<surname>Gainotti</surname>
</persName>
<affiliation>
<orgName>National Centre for Rare Diseases</orgName>
<orgName>Istituto Superiore di Sanità</orgName>
<address>
<settlement type="city">Rome</settlement>
<country key="IT">Italy</country>
</address>
</affiliation>
</author>
<author xml:id="author-0059">
<persName>
<forename type="first">Domenica</forename>
<surname>Taruscio</surname>
</persName>
<affiliation>
<orgName>National Centre for Rare Diseases</orgName>
<orgName>Istituto Superiore di Sanità</orgName>
<address>
<settlement type="city">Rome</settlement>
<country key="IT">Italy</country>
</address>
</affiliation>
</author>
<author xml:id="author-0060">
<persName>
<forename type="first">Jan</forename>
<surname>Kirschner</surname>
</persName>
<affiliation>
<orgName>University Medical Center</orgName>
<address>
<settlement type="city">Freiburg</settlement>
<country key="DE">Germany</country>
</address>
</affiliation>
</author>
<author xml:id="author-0061">
<persName>
<forename type="first">Jan</forename>
<surname>Verschuuren</surname>
</persName>
<affiliation>
<orgName>Leiden University Medical Center</orgName>
<orgName>Department of Neurology</orgName>
<address>
<settlement type="city">Leiden</settlement>
<region>ZA</region>
<country key="NL">The Netherlands</country>
</address>
</affiliation>
</author>
<author xml:id="author-0062">
<persName>
<forename type="first">Kate</forename>
<surname>Bushby</surname>
</persName>
<affiliation>
<orgName>MRC Centre for Neuromuscular Diseases at Newcastle</orgName>
<orgName>Institute of Genetic Medicine, Newcastle upon Tyne</orgName>
<address>
<country key="GB">UK</country>
</address>
</affiliation>
</author>
<author xml:id="author-0063">
<persName>
<forename type="first">Christophe</forename>
<surname>Béroud</surname>
</persName>
<affiliation>
<orgName>INSERM UMR_S910</orgName>
<orgName>Aix‐Marseille UniversitéFaculté de Médecine La Timone</orgName>
<address>
<settlement type="city">Marseille Cedex</settlement>
<country key="FR">France</country>
</address>
</affiliation>
</author>
<author xml:id="author-0064" role="corresp">
<persName>
<forename type="first">Hanns</forename>
<surname>Lochmüller</surname>
</persName>
<affiliation>
<orgName>MRC Centre for Neuromuscular Diseases at Newcastle</orgName>
<orgName>Institute of Genetic Medicine, Newcastle upon Tyne</orgName>
<address>
<country key="GB">UK</country>
</address>
</affiliation>
<affiliation>Correspondence to: Hanns Lochmüller, MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. E‐mail: hanns.lochmuller@ncl.ac.uk</affiliation>
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<title level="j" type="main">Human Mutation</title>
<title level="j" type="alt">HUMAN MUTATION</title>
<idno type="pISSN">1059-7794</idno>
<idno type="eISSN">1098-1004</idno>
<idno type="book-DOI">10.1002/(ISSN)1098-1004</idno>
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<abstract style="main">
<head>ABSTRACT</head>
<p>Duchenne muscular dystrophy (
<hi rend="fc">DMD</hi>
) is an
<hi rend="fc">X</hi>
‐linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for
<hi rend="fc">DMD</hi>
, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties.
<hi rend="fc">DMD</hi>
is a rare disease (prevalence <5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes.
<hi rend="fc">TREAT</hi>
<hi rend="fc">NMD</hi>
is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of
<hi rend="fc">TREAT</hi>
<hi rend="fc">NMD</hi>
. For the
<hi rend="fc">DMD</hi>
registries within
<hi rend="fc">TREAT</hi>
<hi rend="fc">NMD</hi>
, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here, we describe how the
<hi rend="fc">TREAT</hi>
<hi rend="fc">NMD</hi>
national patient registries for
<hi rend="fc">DMD</hi>
were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.</p>
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<p>TREAT‐NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients.
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uchenne muscular dystrophy</term>
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<hi rend="fc">DMD</hi>
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<coverDate startDate="2013-11">November 2013</coverDate>
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<correspondenceTo>Correspondence to: Hanns Lochmüller, MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. E‐mail:
<email>hanns.lochmuller@ncl.ac.uk</email>
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<title type="main">The
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uchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia</title>
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<address>
<city>Paris</city>
<country>France</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0015" countryCode="DE">
<orgDiv>Friedrich‐Baur‐Institute, Department of Neurology</orgDiv>
<orgName>Ludwig‐Maximilians‐University of Munich</orgName>
<address>
<city>Munich</city>
<country>Germany</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0016" countryCode="HU">
<orgName>NIEH, Molecular Genetic Department</orgName>
<address>
<city>Budapest</city>
<country>Hungary</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0017" countryCode="IN">
<orgDiv>Kanchi Kamakoti CHILDS Trust Hospital</orgDiv>
<orgName>Nungambakkam</orgName>
<address>
<city>Chennai</city>
<country>India</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0018" countryCode="IR">
<orgDiv>Pasteur Institute of Iran</orgDiv>
<orgName>Karaj Complex</orgName>
<address>
<city>Tehran</city>
<country>Iran</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0019" countryCode="IT">
<orgName>Fondazione Telethon‐Piazza Cavour 1</orgName>
<address>
<city>Milan</city>
<country>Italy</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0020" countryCode="IT">
<orgName>Parent Project Onlus</orgName>
<address>
<city>Via Aurelia 1299 Roma</city>
<country>Italy</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0021" countryCode="JP">
<orgDiv>Translational Medical Centre</orgDiv>
<orgName>National Centre of Neurology and Psychiatry</orgName>
<address>
<street>4‐1‐1 Ogawa‐Higashi, Kodaira</street>
<city>Tokyo 187‐8551</city>
<country>Japan</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0022" countryCode="NL">
<orgDiv>Leiden University Medical Center</orgDiv>
<orgName>Department of Neurology</orgName>
<address>
<countryPart>ZA</countryPart>
<city>Leiden</city>
<country>The Netherlands</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0023" countryCode="NZ">
<orgDiv>Neurology</orgDiv>
<orgName>Auckland City Hospital</orgName>
<address>
<city>Auckland</city>
<country>New Zealand</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0024" countryCode="PL">
<orgDiv>Department of Neurology</orgDiv>
<orgName>Warszawa Banacha 1a</orgName>
<address>
<country>Poland</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0025" countryCode="PT">
<orgName>Centro de Genética Médica Jacinto Magalhães</orgName>
<address>
<city>Porto</city>
<country>Portugal</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0026" countryCode="RO">
<orgDiv>Pediatric Neurology Department</orgDiv>
<orgName>Hospital Al. Obregia</orgName>
<address>
<city>Bucharest</city>
<country>Romania</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0027" countryCode="RU">
<orgName>Rublevskoe shosse</orgName>
<address>
<city>Moscow</city>
<country>Russia</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0028" countryCode="RS">
<orgName>Clinic for Child Neurology and Psychiatry</orgName>
<address>
<city>Belgrade</city>
<country>Serbia</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0029" countryCode="ES">
<orgDiv>Institute of Rare Diseases Research</orgDiv>
<orgName>Institute of Health Carlos III</orgName>
<address>
<city>Madrid</city>
<country>Spain</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0030" countryCode="ES">
<orgDiv>Unit of Genetics</orgDiv>
<orgName>Hospital la Fe</orgName>
<address>
<city>Valencia</city>
<country>Spain</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0031" countryCode="SE">
<orgDiv>Muskelcentrum</orgDiv>
<orgName>Dep of Neurology</orgName>
<address>
<city>USÖ</city>
<countryPart>Örebro</countryPart>
<country>Sweden</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0032" countryCode="CH">
<orgDiv>Paediatric Neurology and Neurorehabilitation Unit</orgDiv>
<orgName>Lausanne University Hospital</orgName>
<address>
<city>Lausanne</city>
<country>Switzerland</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0033" countryCode="TR">
<orgName>Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation</orgName>
<address>
<city>Altındağ</city>
<countryPart>Ankara</countryPart>
<country>Turkey</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0034" countryCode="TR">
<orgDiv>Istanbul University Faculty of Medicine</orgDiv>
<orgName>Neurology Department</orgName>
<address>
<city>PTR Unit, Istanbul</city>
<country>Turkey</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0035" countryCode="GB">
<orgDiv>Action Duchenne</orgDiv>
<orgName>Epicentre</orgName>
<address>
<city>London</city>
<country>UK</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0036" countryCode="UA">
<orgDiv>Institute of Neurology</orgDiv>
<orgName>Psychiatry and Narcology of NAMS</orgName>
<address>
<city>Kharkiv</city>
<country>Ukraine</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0037">
<orgName>DuchenneConnect</orgName>
<address>
<city>Hackensack</city>
<countryPart>New Jersey</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0038">
<orgDiv>The Ohio State University</orgDiv>
<orgName>and Nationwide Children's Hospital</orgName>
<address>
<city>Columbus</city>
<countryPart>Ohio</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0039" countryCode="IT">
<orgDiv>National Centre for Rare Diseases</orgDiv>
<orgName>Istituto Superiore di Sanità</orgName>
<address>
<city>Rome</city>
<country>Italy</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0040" countryCode="DE">
<orgName>University Medical Center</orgName>
<address>
<city>Freiburg</city>
<country>Germany</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0041" countryCode="FR">
<orgDiv>INSERM UMR_S910</orgDiv>
<orgName>Aix‐Marseille UniversitéFaculté de Médecine La Timone</orgName>
<address>
<city>Marseille Cedex</city>
<country>France</country>
</address>
</affiliation>
<affiliation xml:id="humu22390-aff-0042">
<orgDiv>Australian Regenerative Medicine Institute</orgDiv>
<orgName>EMBL‐Australia, Monash University, Clayton Campus</orgName>
</affiliation>
</affiliationGroup>
<keywordGroup type="author">
<keyword xml:id="humu22390-kwd-0001">
<fc>D</fc>
uchenne muscular dystrophy</keyword>
<keyword xml:id="humu22390-kwd-0002">
<fc>DMD</fc>
</keyword>
<keyword xml:id="humu22390-kwd-0003">rare disease</keyword>
<keyword xml:id="humu22390-kwd-0004">disease registries</keyword>
<keyword xml:id="humu22390-kwd-0005">
<fc>TREAT</fc>
<fc>NMD</fc>
</keyword>
</keywordGroup>
<fundingInfo>
<fundingAgency>European Commission and TREAT‐NMD</fundingAgency>
<fundingNumber>FP6 LSHM‐CT‐2006–036825</fundingNumber>
<fundingNumber>20123307 UNEW_FY2013</fundingNumber>
</fundingInfo>
<fundingInfo>
<fundingAgency>AFM (Association Francais contre les Myopathies)</fundingAgency>
<fundingNumber>16104</fundingNumber>
</fundingInfo>
<supportingInformation>
<p>Disclaimer: Supplementary materials have been peer‐reviewed but not copyedited.</p>
<supportingInfoItem>
<mediaResource alt="supplementary_material" rendition="webOriginal" href="urn-x:wiley:10597794:media:humu22390:humu22390-sup-0001-Suppmat"></mediaResource>
<caption>Supporting Information</caption>
</supportingInfoItem>
</supportingInformation>
<abstractGroup>
<abstract type="main">
<title type="main">ABSTRACT</title>
<p>Duchenne muscular dystrophy (
<fc>DMD</fc>
) is an
<fc>X</fc>
‐linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for
<fc>DMD</fc>
, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties.
<fc>DMD</fc>
is a rare disease (prevalence <5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes.
<fc>TREAT</fc>
<fc>NMD</fc>
is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of
<fc>TREAT</fc>
<fc>NMD</fc>
. For the
<fc>DMD</fc>
registries within
<fc>TREAT</fc>
<fc>NMD</fc>
, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here, we describe how the
<fc>TREAT</fc>
<fc>NMD</fc>
national patient registries for
<fc>DMD</fc>
were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.</p>
</abstract>
<abstract xml:id="humu22390-abs-0001" type="graphical" xml:lang="en">
<p>TREAT‐NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients.
<blockFixed type="graphic">
<mediaResourceGroup>
<mediaResource alt="image" href="urn:x-wiley:10597794:media:humu22390:humu22390-gra-0001"></mediaResource>
</mediaResourceGroup>
</blockFixed>
</p>
</abstract>
</abstractGroup>
</contentMeta>
<noteGroup>
<note xml:id="humu22390-note-0001" numbered="no">
<p>Contract grant sponsor: European Commission and TREAT‐NMD (FP6 LSHM‐CT‐2006–036825, 20123307 UNEW_FY2013, AFM (Association Francais contre les Myopathies) 16104).</p>
</note>
<note xml:id="humu22390-note-0002" numbered="no">
<p>Communicated by Mark H. Paalman</p>
</note>
</noteGroup>
</header>
</component>
</istex:document>
</istex:metadataXml>
<mods version="3.6">
<titleInfo lang="en">
<title>The TREAT‐NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia</title>
</titleInfo>
<titleInfo type="alternative" contentType="CDATA" lang="en">
<title>The TREAT‐NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia</title>
</titleInfo>
<name type="personal">
<namePart type="given">Catherine L.</namePart>
<namePart type="family">Bladen</namePart>
<affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Karen</namePart>
<namePart type="family">Rafferty</namePart>
<affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Volker</namePart>
<namePart type="family">Straub</namePart>
<affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Soledad</namePart>
<namePart type="family">Monges</namePart>
<affiliation>Hospital Pediatría J. P. Garrahan, Argentina</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Angélica</namePart>
<namePart type="family">Moresco</namePart>
<affiliation>Hospital Pediatría J. P. Garrahan, Argentina</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Hugh</namePart>
<namePart type="family">Dawkins</namePart>
<affiliation>Office of Population Health Genomics, Department of Health, 189 Royal Street, Level 3C Western Australia, Australia</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Anna</namePart>
<namePart type="family">Roy</namePart>
<affiliation>WIV‐ISP, Brussels, Belgium</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Teodora</namePart>
<namePart type="family">Chamova</namePart>
<affiliation>Department of Neurology, Medical University‐Sofia, Sofia, Bulgaria</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Velina</namePart>
<namePart type="family">Guergueltcheva</namePart>
<affiliation>Department of Neurology, Medical University‐Sofia, Sofia, Bulgaria</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Lawrence</namePart>
<namePart type="family">Korngut</namePart>
<affiliation>University of Calgary, Health Sciences Centre, NW Calgary, Alberta, Canada</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Craig</namePart>
<namePart type="family">Campbell</namePart>
<affiliation>Department of Paediatrics, Clinical Neurological Sciences and Epidemiology, Western University, London, Ontario, Canada</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Yi</namePart>
<namePart type="family">Dai</namePart>
<affiliation>Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Nina</namePart>
<namePart type="family">Barišić</namePart>
<affiliation>Division of Paediatric Neurology, University Hospital Centre Zagreb (KBC Zagreb), University of Zagreb Medical School, Zagreb, Croatia</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Tea</namePart>
<namePart type="family">Kos</namePart>
<affiliation>Division of Paediatric Neurology, University Hospital Centre Zagreb (KBC Zagreb), University of Zagreb Medical School, Zagreb, Croatia</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Petr</namePart>
<namePart type="family">Brabec</namePart>
<affiliation>Institute for Biostatistics and Analyses, Masaryk University, Brno, Czech Republic</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Jes</namePart>
<namePart type="family">Rahbek</namePart>
<affiliation>National Danish Rehabilitation Centre for Neuromuscular Diseases, Aarhus, Denmark</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Jaana</namePart>
<namePart type="family">Lahdetie</namePart>
<affiliation>Turku University Central Hospital, Turku, Finland</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Sylvie</namePart>
<namePart type="family">Tuffery‐Giraud</namePart>
<affiliation>Laboratoire de Génétique de Maladies Rares, Université Montpellier 1 and Inserm U827, Montpellier, France</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Mireille</namePart>
<namePart type="family">Claustres</namePart>
<affiliation>Laboratoire de Génétique de Maladies Rares, Université Montpellier 1 and Inserm U827, Montpellier, France</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">France</namePart>
<namePart type="family">Leturcq</namePart>
<affiliation>Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Paris, France</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Rabah</namePart>
<namePart type="family">Ben Yaou</namePart>
<affiliation>Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Paris, France</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Maggie C.</namePart>
<namePart type="family">Walter</namePart>
<affiliation>Friedrich‐Baur‐Institute, Department of Neurology, Ludwig‐Maximilians‐University of Munich, Munich, Germany</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Olivia</namePart>
<namePart type="family">Schreiber</namePart>
<affiliation>Friedrich‐Baur‐Institute, Department of Neurology, Ludwig‐Maximilians‐University of Munich, Munich, Germany</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Veronika</namePart>
<namePart type="family">Karcagi</namePart>
<affiliation>NIEH, Molecular Genetic Department, Budapest, Hungary</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Agnes</namePart>
<namePart type="family">Herczegfalvi</namePart>
<affiliation>NIEH, Molecular Genetic Department, Budapest, Hungary</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Venkatarman</namePart>
<namePart type="family">Viswanathan</namePart>
<affiliation>Kanchi Kamakoti CHILDS Trust Hospital, Nungambakkam, Chennai, India</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Farhad</namePart>
<namePart type="family">Bayat</namePart>
<affiliation>Pasteur Institute of Iran, Karaj Complex, Tehran, Iran</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Isis</namePart>
<namePart type="family">de la caridad Guerrero Sarmiento</namePart>
<affiliation>Pasteur Institute of Iran, Karaj Complex, Tehran, Iran</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Anna</namePart>
<namePart type="family">Ambrosini</namePart>
<affiliation>Fondazione Telethon‐Piazza Cavour 1, Milan, Italy</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Francesca</namePart>
<namePart type="family">Ceradini</namePart>
<affiliation>Parent Project Onlus, Via Aurelia 1299 Roma, Italy</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">En</namePart>
<namePart type="family">Kimura</namePart>
<affiliation>Translational Medical Centre, National Centre of Neurology and Psychiatry, 4‐1‐1 Ogawa‐Higashi, Kodaira, Tokyo 187‐8551, Japan</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Janneke C.</namePart>
<namePart type="family">van den Bergen</namePart>
<affiliation>Leiden University Medical Center, Department of Neurology, ZA, Leiden, The Netherlands</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Miriam</namePart>
<namePart type="family">Rodrigues</namePart>
<affiliation>Neurology, Auckland City Hospital, Auckland, New Zealand</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Richard</namePart>
<namePart type="family">Roxburgh</namePart>
<affiliation>Neurology, Auckland City Hospital, Auckland, New Zealand</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Anna</namePart>
<namePart type="family">Lusakowska</namePart>
<affiliation>Department of Neurology, Warszawa Banacha 1a, Poland</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Jorge</namePart>
<namePart type="family">Oliveira</namePart>
<affiliation>Centro de Genética Médica Jacinto Magalhães, Porto, Portugal</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Rosário</namePart>
<namePart type="family">Santos</namePart>
<affiliation>Centro de Genética Médica Jacinto Magalhães, Porto, Portugal</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Elena</namePart>
<namePart type="family">Neagu</namePart>
<affiliation>Pediatric Neurology Department, Hospital Al. Obregia, Bucharest, Romania</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Niculina</namePart>
<namePart type="family">Butoianu</namePart>
<affiliation>Pediatric Neurology Department, Hospital Al. Obregia, Bucharest, Romania</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Svetlana</namePart>
<namePart type="family">Artemieva</namePart>
<affiliation>Rublevskoe shosse, Moscow, Russia</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Vedrana Milic</namePart>
<namePart type="family">Rasic</namePart>
<affiliation>Clinic for Child Neurology and Psychiatry, Belgrade, Serbia</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Manuel</namePart>
<namePart type="family">Posada</namePart>
<affiliation>Institute of Rare Diseases Research, Institute of Health Carlos III, Madrid, Spain</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Francesc</namePart>
<namePart type="family">Palau</namePart>
<affiliation>Unit of Genetics, Hospital la Fe, Valencia, Spain</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Björn</namePart>
<namePart type="family">Lindvall</namePart>
<affiliation>Muskelcentrum, Dep of Neurology, Örebro, USÖ, Sweden</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Clemens</namePart>
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<affiliation>Leiden University Medical Center, Department of Neurology, ZA, Leiden, The Netherlands</affiliation>
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<namePart type="given">Kate</namePart>
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<namePart type="given">Hanns</namePart>
<namePart type="family">Lochmüller</namePart>
<affiliation>MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Newcastle upon Tyne, UK</affiliation>
<affiliation>E-mail: hanns.lochmuller@ncl.ac.uk</affiliation>
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<dateIssued encoding="w3cdtf">2013-11</dateIssued>
<dateCreated encoding="w3cdtf">2013-08-08</dateCreated>
<dateCaptured encoding="w3cdtf">2013-05-08</dateCaptured>
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<abstract>Duchenne muscular dystrophy (DMD) is an X‐linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence <5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes. TREAT‐NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT‐NMD. For the DMD registries within TREAT‐NMD, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here, we describe how the TREAT‐NMD national patient registries for DMD were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.</abstract>
<abstract type="graphical" lang="en">TREAT‐NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients.</abstract>
<note type="funding">European Commission and TREAT‐NMD - No. FP6 LSHM‐CT‐2006–036825; No. 20123307 UNEW_FY2013; </note>
<note type="funding">AFM (Association Francais contre les Myopathies) - No. 16104; </note>
<subject>
<genre>keywords</genre>
<topic>Duchenne muscular dystrophy</topic>
<topic>DMD</topic>
<topic>rare disease</topic>
<topic>disease registries</topic>
<topic>TREAT‐NMD</topic>
</subject>
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<title>Human Mutation</title>
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<note type="content"> Disclaimer: Supplementary materials have been peer‐reviewed but not copyedited.Supporting Info Item: Supporting Information - </note>
<subject>
<genre>article-category</genre>
<topic>Databases</topic>
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<identifier type="ISSN">1059-7794</identifier>
<identifier type="eISSN">1098-1004</identifier>
<identifier type="DOI">10.1002/(ISSN)1098-1004</identifier>
<identifier type="PublisherID">HUMU</identifier>
<part>
<date>2013</date>
<detail type="volume">
<caption>vol.</caption>
<number>34</number>
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<detail type="issue">
<caption>no.</caption>
<number>11</number>
</detail>
<extent unit="pages">
<start>1449</start>
<end>1457</end>
<total>9</total>
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<identifier type="DOI">10.1002/humu.22390</identifier>
<identifier type="ArticleID">HUMU22390</identifier>
<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2013 Wiley Periodicals, Inc.© 2013 WILEY PERIODICALS, INC.</accessCondition>
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