The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva.
Identifieur interne : 000516 ( PubMed/Corpus ); précédent : 000515; suivant : 000517The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva.
Auteurs : Neal Mantick ; Eric Bachman ; Genevieve Baujat ; Matt Brown ; Oliver Collins ; Carmen De Cunto ; Patricia Delai ; Marelise Eekhoff ; Roger Zum Felde ; Donna Roy Grogan ; Nobuhiko Haga ; Edward Hsiao ; Sharon Kantanie ; Frederick Kaplan ; Richard Keen ; Jelena Milosevic ; Rolf Morhart ; Robert Pignolo ; Xiaobing Qian ; Maja Di Rocco ; Christiaan Scott ; Adam Sherman ; Marin Wallace ; Nicky Williams ; Keqin Zhang ; Betsy BogardSource :
- Bone [ 1873-2763 ] ; 2017.
Abstract
The Fibrodysplasia Ossificans Progressiva (FOP) Connection Registry is an international, voluntary, observational study that directly captures demographic and disease information initially from patients with FOP (the patient portal) and in the near future from treating physicians (the physician portal) via a secure web-based tool. It was launched by the International FOP Association (IFOPA) with a guiding vision to develop and manage one unified, global, and coordinated Registry allowing the assembly of the most comprehensive data on FOP. This will ultimately facilitate greater access and sharing of patient data and enable better and faster development of therapies and tracking their long-term treatment effectiveness and safety. This report outlines the FOP Connection Registry's design and procedures for data collection and reporting, as well as the long-term sustainability of Registry. Patient-reported, aggregate data are summarized for the first 196 enrolled patients, representing participation from 42 countries and approximately 25% of the world's known FOP population. Fifty-seven percent of the current Registry participants are female with a mean age of 23.8years (median=21years, range=1, 76years). Among the Registry participants who provided their FOP type, 51% reported FOP Classic (R206H), 41% reported FOP Type Unknown, and 8% reported FOP Variant. Patients reported 5.4years (median=3.0years, range=0, 45.8years) as the mean age at which they noticed their first FOP symptoms and a mean age at final FOP diagnosis of 7.5years (median=5.0years, range=0.1, 48.4years). Information on the patients' diagnostic journeys in arriving at a correct diagnosis of FOP is also presented. These early patient-reported data suggest that the IFOPA's vision of one, unified, global, and coordinated approach to the FOP Connection Registry is well underway to being realized. In addition, the positive response from the FOP patient community to the initial launch of the Registry's patient portal has created a solid foundation upon which to build the largest international registry for monitoring the clinical progression of FOP among patients.
DOI: 10.1016/j.bone.2017.08.032
PubMed: 28866367
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva.</title><author><name sortKey="Mantick, Neal" sort="Mantick, Neal" uniqKey="Mantick N" first="Neal" last="Mantick">Neal Mantick</name><affiliation><nlm:affiliation>International FOP Association, 1520 Clay St, Suite H2, North Kansas City, MO 64116, USA. Electronic address: mantick.consulting@comcast.net.</nlm:affiliation></affiliation></author><author><name sortKey="Bachman, Eric" sort="Bachman, Eric" uniqKey="Bachman E" first="Eric" last="Bachman">Eric Bachman</name><affiliation><nlm:affiliation>Alexion Pharmaceuticals, 33 Hayden Parkway, Lexington, MA 02421, USA. Electronic address: Eric.Bachman@alexion.com.</nlm:affiliation></affiliation></author><author><name sortKey="Baujat, Genevieve" sort="Baujat, Genevieve" uniqKey="Baujat G" first="Genevieve" last="Baujat">Genevieve Baujat</name><affiliation><nlm:affiliation>Imagine Institut, Necker Hospital, 149 rue de Sèvres, 75015 Paris, France. Electronic address: genevieve.baujat@nck.aphp.fr.</nlm:affiliation></affiliation></author><author><name sortKey="Brown, Matt" sort="Brown, Matt" uniqKey="Brown M" first="Matt" last="Brown">Matt Brown</name><affiliation><nlm:affiliation>Queensland University of Technology, 2 George Street Brisbane, Queensland 4001, Australia. Electronic address: matt.brown@qut.edu.au.</nlm:affiliation></affiliation></author><author><name sortKey="Collins, Oliver" sort="Collins, Oliver" uniqKey="Collins O" first="Oliver" last="Collins">Oliver Collins</name><affiliation><nlm:affiliation>FOP, Australia(1).</nlm:affiliation></affiliation></author><author><name sortKey="De Cunto, Carmen" sort="De Cunto, Carmen" uniqKey="De Cunto C" first="Carmen" last="De Cunto">Carmen De Cunto</name><affiliation><nlm:affiliation>Hospital Italiano de Buenos Aires, Juan D. Perón 4190, C1199ABB Ciudad Autónoma de Buenos Aires, Argentina. Electronic address: carmen.decunto@hospitalitaliano.org.ar.</nlm:affiliation></affiliation></author><author><name sortKey="Delai, Patricia" sort="Delai, Patricia" uniqKey="Delai P" first="Patricia" last="Delai">Patricia Delai</name><affiliation><nlm:affiliation>Santa Casa de Misericordia de São Paulo, Rua Santa Isabel, 305, 5° andar-Vila Buarque, CEP: 01221-010 São Paulo, SP, Brazil.</nlm:affiliation></affiliation></author><author><name sortKey="Eekhoff, Marelise" sort="Eekhoff, Marelise" uniqKey="Eekhoff M" first="Marelise" last="Eekhoff">Marelise Eekhoff</name><affiliation><nlm:affiliation>Department of Internal Medicine, Section Endocrinology, VU University Medical Centre, De Boelelaan 1117, 1081 HV Amsterdam, Netherlands. Electronic address: EMW.Eekhoff@vumc.nl.</nlm:affiliation></affiliation></author><author><name sortKey="Zum Felde, Roger" sort="Zum Felde, Roger" uniqKey="Zum Felde R" first="Roger" last="Zum Felde">Roger Zum Felde</name><affiliation><nlm:affiliation>FOP e.V., Germany(2).</nlm:affiliation></affiliation></author><author><name sortKey="Grogan, Donna Roy" sort="Grogan, Donna Roy" uniqKey="Grogan D" first="Donna Roy" last="Grogan">Donna Roy Grogan</name><affiliation><nlm:affiliation>Clementia Pharmaceuticals, 275 Grove Street, Suite 2-400, Auburndale, MA 02466, USA. Electronic address: dgrogan@clementiapharma.com.</nlm:affiliation></affiliation></author><author><name sortKey="Haga, Nobuhiko" sort="Haga, Nobuhiko" uniqKey="Haga N" first="Nobuhiko" last="Haga">Nobuhiko Haga</name><affiliation><nlm:affiliation>The University of Tokyo, 7-3-1 Hongo, Bunkyō, Tokyo 113-8654, Japan. Electronic address: hagan-reh@h.u-tokyo.ac.jp.</nlm:affiliation></affiliation></author><author><name sortKey="Hsiao, Edward" sort="Hsiao, Edward" uniqKey="Hsiao E" first="Edward" last="Hsiao">Edward Hsiao</name><affiliation><nlm:affiliation>University of California-San Francisco, 513 Parnassus Avenue, Room HSE901G, San Francisco, CA 94143-0794, USA. Electronic address: Edward.Hsiao@ucsf.edu.</nlm:affiliation></affiliation></author><author><name sortKey="Kantanie, Sharon" sort="Kantanie, Sharon" uniqKey="Kantanie S" first="Sharon" last="Kantanie">Sharon Kantanie</name><affiliation><nlm:affiliation>International FOP Association, 1520 Clay St, Suite H2, North Kansas City, MO 64116, USA. Electronic address: together@ifopa.org.</nlm:affiliation></affiliation></author><author><name sortKey="Kaplan, Frederick" sort="Kaplan, Frederick" uniqKey="Kaplan F" first="Frederick" last="Kaplan">Frederick Kaplan</name><affiliation><nlm:affiliation>Perelman School of Medicine, The University of Pennsylvania, c/o Department of Orthopaedic Surgery, Penn Musculoskeletal Center-Suite 600, 3737 Market Street, Philadelphia, PA 19104, USA. Electronic address: Frederick.Kaplan@uphs.upenn.edu.</nlm:affiliation></affiliation></author><author><name sortKey="Keen, Richard" sort="Keen, Richard" uniqKey="Keen R" first="Richard" last="Keen">Richard Keen</name><affiliation><nlm:affiliation>Royal National Orthopaedic Hospital, Stanmore HA7 4LP, UK. Electronic address: Richard.Keen@rnoh.nhs.uk.</nlm:affiliation></affiliation></author><author><name sortKey="Milosevic, Jelena" sort="Milosevic, Jelena" uniqKey="Milosevic J" first="Jelena" last="Milosevic">Jelena Milosevic</name><affiliation><nlm:affiliation>FOP, Serbia.</nlm:affiliation></affiliation></author><author><name sortKey="Morhart, Rolf" sort="Morhart, Rolf" uniqKey="Morhart R" first="Rolf" last="Morhart">Rolf Morhart</name><affiliation><nlm:affiliation>Triftstr.12, 82467 Garmisch-Partenkirchen, Germany. Electronic address: rmorhart@web.de.</nlm:affiliation></affiliation></author><author><name sortKey="Pignolo, Robert" sort="Pignolo, Robert" uniqKey="Pignolo R" first="Robert" last="Pignolo">Robert Pignolo</name><affiliation><nlm:affiliation>Robert Pignolo, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address: Pignolo.Robert@mayo.edu.</nlm:affiliation></affiliation></author><author><name sortKey="Qian, Xiaobing" sort="Qian, Xiaobing" uniqKey="Qian X" first="Xiaobing" last="Qian">Xiaobing Qian</name><affiliation><nlm:affiliation>Regeneron Pharmaceuticals, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA. Electronic address: Xiaobing.Qian@regeneron.com.</nlm:affiliation></affiliation></author><author><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name><affiliation><nlm:affiliation>Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy. Electronic address: Majadirocco@gaslini.org.</nlm:affiliation></affiliation></author><author><name sortKey="Scott, Christiaan" sort="Scott, Christiaan" uniqKey="Scott C" first="Christiaan" last="Scott">Christiaan Scott</name><affiliation><nlm:affiliation>Red Cross War Memorial Children's Hospital, Room 515, ICH Building, Klipfontein Road, Rondebosch, Cape Town 7700, South Africa. Electronic address: chris.scott@uct.ac.za.</nlm:affiliation></affiliation></author><author><name sortKey="Sherman, Adam" sort="Sherman, Adam" uniqKey="Sherman A" first="Adam" last="Sherman">Adam Sherman</name><affiliation><nlm:affiliation>International FOP Association, 1520 Clay St, Suite H2, North Kansas City, MO 64116, USA. Electronic address: adam.sherman@ifopa.org.</nlm:affiliation></affiliation></author><author><name sortKey="Wallace, Marin" sort="Wallace, Marin" uniqKey="Wallace M" first="Marin" last="Wallace">Marin Wallace</name><affiliation><nlm:affiliation>Canadian FOP Network, Canada(3).</nlm:affiliation></affiliation></author><author><name sortKey="Williams, Nicky" sort="Williams, Nicky" uniqKey="Williams N" first="Nicky" last="Williams">Nicky Williams</name><affiliation><nlm:affiliation>FOP Friends (FOP Action), UK(4).</nlm:affiliation></affiliation></author><author><name sortKey="Zhang, Keqin" sort="Zhang, Keqin" uniqKey="Zhang K" first="Keqin" last="Zhang">Keqin Zhang</name><affiliation><nlm:affiliation>Tongji Hospital, Shanghai Tongji University, 389 Xin Cun Road, Shanghai 200065, PR China. Electronic address: keqzhang2007@126.com.</nlm:affiliation></affiliation></author><author><name sortKey="Bogard, Betsy" sort="Bogard, Betsy" uniqKey="Bogard B" first="Betsy" last="Bogard">Betsy Bogard</name><affiliation><nlm:affiliation>International FOP Association, 1520 Clay St, Suite H2, North Kansas City, MO 64116, USA. Electronic address: betsy.bogard@ifopa.org.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28866367</idno><idno type="pmid">28866367</idno><idno type="doi">10.1016/j.bone.2017.08.032</idno><idno type="wicri:Area/PubMed/Corpus">000516</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000516</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva.</title><author><name sortKey="Mantick, Neal" sort="Mantick, Neal" uniqKey="Mantick N" first="Neal" last="Mantick">Neal Mantick</name><affiliation><nlm:affiliation>International FOP Association, 1520 Clay St, Suite H2, North Kansas City, MO 64116, USA. Electronic address: mantick.consulting@comcast.net.</nlm:affiliation></affiliation></author><author><name sortKey="Bachman, Eric" sort="Bachman, Eric" uniqKey="Bachman E" first="Eric" last="Bachman">Eric Bachman</name><affiliation><nlm:affiliation>Alexion Pharmaceuticals, 33 Hayden Parkway, Lexington, MA 02421, USA. Electronic address: Eric.Bachman@alexion.com.</nlm:affiliation></affiliation></author><author><name sortKey="Baujat, Genevieve" sort="Baujat, Genevieve" uniqKey="Baujat G" first="Genevieve" last="Baujat">Genevieve Baujat</name><affiliation><nlm:affiliation>Imagine Institut, Necker Hospital, 149 rue de Sèvres, 75015 Paris, France. Electronic address: genevieve.baujat@nck.aphp.fr.</nlm:affiliation></affiliation></author><author><name sortKey="Brown, Matt" sort="Brown, Matt" uniqKey="Brown M" first="Matt" last="Brown">Matt Brown</name><affiliation><nlm:affiliation>Queensland University of Technology, 2 George Street Brisbane, Queensland 4001, Australia. Electronic address: matt.brown@qut.edu.au.</nlm:affiliation></affiliation></author><author><name sortKey="Collins, Oliver" sort="Collins, Oliver" uniqKey="Collins O" first="Oliver" last="Collins">Oliver Collins</name><affiliation><nlm:affiliation>FOP, Australia(1).</nlm:affiliation></affiliation></author><author><name sortKey="De Cunto, Carmen" sort="De Cunto, Carmen" uniqKey="De Cunto C" first="Carmen" last="De Cunto">Carmen De Cunto</name><affiliation><nlm:affiliation>Hospital Italiano de Buenos Aires, Juan D. Perón 4190, C1199ABB Ciudad Autónoma de Buenos Aires, Argentina. Electronic address: carmen.decunto@hospitalitaliano.org.ar.</nlm:affiliation></affiliation></author><author><name sortKey="Delai, Patricia" sort="Delai, Patricia" uniqKey="Delai P" first="Patricia" last="Delai">Patricia Delai</name><affiliation><nlm:affiliation>Santa Casa de Misericordia de São Paulo, Rua Santa Isabel, 305, 5° andar-Vila Buarque, CEP: 01221-010 São Paulo, SP, Brazil.</nlm:affiliation></affiliation></author><author><name sortKey="Eekhoff, Marelise" sort="Eekhoff, Marelise" uniqKey="Eekhoff M" first="Marelise" last="Eekhoff">Marelise Eekhoff</name><affiliation><nlm:affiliation>Department of Internal Medicine, Section Endocrinology, VU University Medical Centre, De Boelelaan 1117, 1081 HV Amsterdam, Netherlands. Electronic address: EMW.Eekhoff@vumc.nl.</nlm:affiliation></affiliation></author><author><name sortKey="Zum Felde, Roger" sort="Zum Felde, Roger" uniqKey="Zum Felde R" first="Roger" last="Zum Felde">Roger Zum Felde</name><affiliation><nlm:affiliation>FOP e.V., Germany(2).</nlm:affiliation></affiliation></author><author><name sortKey="Grogan, Donna Roy" sort="Grogan, Donna Roy" uniqKey="Grogan D" first="Donna Roy" last="Grogan">Donna Roy Grogan</name><affiliation><nlm:affiliation>Clementia Pharmaceuticals, 275 Grove Street, Suite 2-400, Auburndale, MA 02466, USA. Electronic address: dgrogan@clementiapharma.com.</nlm:affiliation></affiliation></author><author><name sortKey="Haga, Nobuhiko" sort="Haga, Nobuhiko" uniqKey="Haga N" first="Nobuhiko" last="Haga">Nobuhiko Haga</name><affiliation><nlm:affiliation>The University of Tokyo, 7-3-1 Hongo, Bunkyō, Tokyo 113-8654, Japan. Electronic address: hagan-reh@h.u-tokyo.ac.jp.</nlm:affiliation></affiliation></author><author><name sortKey="Hsiao, Edward" sort="Hsiao, Edward" uniqKey="Hsiao E" first="Edward" last="Hsiao">Edward Hsiao</name><affiliation><nlm:affiliation>University of California-San Francisco, 513 Parnassus Avenue, Room HSE901G, San Francisco, CA 94143-0794, USA. Electronic address: Edward.Hsiao@ucsf.edu.</nlm:affiliation></affiliation></author><author><name sortKey="Kantanie, Sharon" sort="Kantanie, Sharon" uniqKey="Kantanie S" first="Sharon" last="Kantanie">Sharon Kantanie</name><affiliation><nlm:affiliation>International FOP Association, 1520 Clay St, Suite H2, North Kansas City, MO 64116, USA. Electronic address: together@ifopa.org.</nlm:affiliation></affiliation></author><author><name sortKey="Kaplan, Frederick" sort="Kaplan, Frederick" uniqKey="Kaplan F" first="Frederick" last="Kaplan">Frederick Kaplan</name><affiliation><nlm:affiliation>Perelman School of Medicine, The University of Pennsylvania, c/o Department of Orthopaedic Surgery, Penn Musculoskeletal Center-Suite 600, 3737 Market Street, Philadelphia, PA 19104, USA. Electronic address: Frederick.Kaplan@uphs.upenn.edu.</nlm:affiliation></affiliation></author><author><name sortKey="Keen, Richard" sort="Keen, Richard" uniqKey="Keen R" first="Richard" last="Keen">Richard Keen</name><affiliation><nlm:affiliation>Royal National Orthopaedic Hospital, Stanmore HA7 4LP, UK. Electronic address: Richard.Keen@rnoh.nhs.uk.</nlm:affiliation></affiliation></author><author><name sortKey="Milosevic, Jelena" sort="Milosevic, Jelena" uniqKey="Milosevic J" first="Jelena" last="Milosevic">Jelena Milosevic</name><affiliation><nlm:affiliation>FOP, Serbia.</nlm:affiliation></affiliation></author><author><name sortKey="Morhart, Rolf" sort="Morhart, Rolf" uniqKey="Morhart R" first="Rolf" last="Morhart">Rolf Morhart</name><affiliation><nlm:affiliation>Triftstr.12, 82467 Garmisch-Partenkirchen, Germany. Electronic address: rmorhart@web.de.</nlm:affiliation></affiliation></author><author><name sortKey="Pignolo, Robert" sort="Pignolo, Robert" uniqKey="Pignolo R" first="Robert" last="Pignolo">Robert Pignolo</name><affiliation><nlm:affiliation>Robert Pignolo, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address: Pignolo.Robert@mayo.edu.</nlm:affiliation></affiliation></author><author><name sortKey="Qian, Xiaobing" sort="Qian, Xiaobing" uniqKey="Qian X" first="Xiaobing" last="Qian">Xiaobing Qian</name><affiliation><nlm:affiliation>Regeneron Pharmaceuticals, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA. Electronic address: Xiaobing.Qian@regeneron.com.</nlm:affiliation></affiliation></author><author><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name><affiliation><nlm:affiliation>Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy. Electronic address: Majadirocco@gaslini.org.</nlm:affiliation></affiliation></author><author><name sortKey="Scott, Christiaan" sort="Scott, Christiaan" uniqKey="Scott C" first="Christiaan" last="Scott">Christiaan Scott</name><affiliation><nlm:affiliation>Red Cross War Memorial Children's Hospital, Room 515, ICH Building, Klipfontein Road, Rondebosch, Cape Town 7700, South Africa. Electronic address: chris.scott@uct.ac.za.</nlm:affiliation></affiliation></author><author><name sortKey="Sherman, Adam" sort="Sherman, Adam" uniqKey="Sherman A" first="Adam" last="Sherman">Adam Sherman</name><affiliation><nlm:affiliation>International FOP Association, 1520 Clay St, Suite H2, North Kansas City, MO 64116, USA. Electronic address: adam.sherman@ifopa.org.</nlm:affiliation></affiliation></author><author><name sortKey="Wallace, Marin" sort="Wallace, Marin" uniqKey="Wallace M" first="Marin" last="Wallace">Marin Wallace</name><affiliation><nlm:affiliation>Canadian FOP Network, Canada(3).</nlm:affiliation></affiliation></author><author><name sortKey="Williams, Nicky" sort="Williams, Nicky" uniqKey="Williams N" first="Nicky" last="Williams">Nicky Williams</name><affiliation><nlm:affiliation>FOP Friends (FOP Action), UK(4).</nlm:affiliation></affiliation></author><author><name sortKey="Zhang, Keqin" sort="Zhang, Keqin" uniqKey="Zhang K" first="Keqin" last="Zhang">Keqin Zhang</name><affiliation><nlm:affiliation>Tongji Hospital, Shanghai Tongji University, 389 Xin Cun Road, Shanghai 200065, PR China. Electronic address: keqzhang2007@126.com.</nlm:affiliation></affiliation></author><author><name sortKey="Bogard, Betsy" sort="Bogard, Betsy" uniqKey="Bogard B" first="Betsy" last="Bogard">Betsy Bogard</name><affiliation><nlm:affiliation>International FOP Association, 1520 Clay St, Suite H2, North Kansas City, MO 64116, USA. Electronic address: betsy.bogard@ifopa.org.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Bone</title><idno type="eISSN">1873-2763</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The Fibrodysplasia Ossificans Progressiva (FOP) Connection Registry is an international, voluntary, observational study that directly captures demographic and disease information initially from patients with FOP (the patient portal) and in the near future from treating physicians (the physician portal) via a secure web-based tool. It was launched by the International FOP Association (IFOPA) with a guiding vision to develop and manage one unified, global, and coordinated Registry allowing the assembly of the most comprehensive data on FOP. This will ultimately facilitate greater access and sharing of patient data and enable better and faster development of therapies and tracking their long-term treatment effectiveness and safety. This report outlines the FOP Connection Registry's design and procedures for data collection and reporting, as well as the long-term sustainability of Registry. Patient-reported, aggregate data are summarized for the first 196 enrolled patients, representing participation from 42 countries and approximately 25% of the world's known FOP population. Fifty-seven percent of the current Registry participants are female with a mean age of 23.8years (median=21years, range=1, 76years). Among the Registry participants who provided their FOP type, 51% reported FOP Classic (R206H), 41% reported FOP Type Unknown, and 8% reported FOP Variant. Patients reported 5.4years (median=3.0years, range=0, 45.8years) as the mean age at which they noticed their first FOP symptoms and a mean age at final FOP diagnosis of 7.5years (median=5.0years, range=0.1, 48.4years). Information on the patients' diagnostic journeys in arriving at a correct diagnosis of FOP is also presented. These early patient-reported data suggest that the IFOPA's vision of one, unified, global, and coordinated approach to the FOP Connection Registry is well underway to being realized. In addition, the positive response from the FOP patient community to the initial launch of the Registry's patient portal has created a solid foundation upon which to build the largest international registry for monitoring the clinical progression of FOP among patients.</div></front></TEI><pubmed><MedlineCitation Status="Publisher" Owner="NLM"><PMID Version="1">28866367</PMID><DateCreated><Year>2017</Year><Month>09</Month><Day>03</Day></DateCreated><DateRevised><Year>2017</Year><Month>10</Month><Day>03</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1873-2763</ISSN><JournalIssue CitedMedium="Internet"><PubDate><Year>2017</Year><Month>Sep</Month><Day>01</Day></PubDate></JournalIssue><Title>Bone</Title><ISOAbbreviation>Bone</ISOAbbreviation></Journal><ArticleTitle>The FOP Connection Registry: Design of an international patient-sponsored registry for Fibrodysplasia Ossificans Progressiva.</ArticleTitle><ELocationID EIdType="pii" ValidYN="Y">S8756-3282(17)30327-7</ELocationID><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.bone.2017.08.032</ELocationID><Abstract><AbstractText>The Fibrodysplasia Ossificans Progressiva (FOP) Connection Registry is an international, voluntary, observational study that directly captures demographic and disease information initially from patients with FOP (the patient portal) and in the near future from treating physicians (the physician portal) via a secure web-based tool. It was launched by the International FOP Association (IFOPA) with a guiding vision to develop and manage one unified, global, and coordinated Registry allowing the assembly of the most comprehensive data on FOP. This will ultimately facilitate greater access and sharing of patient data and enable better and faster development of therapies and tracking their long-term treatment effectiveness and safety. This report outlines the FOP Connection Registry's design and procedures for data collection and reporting, as well as the long-term sustainability of Registry. Patient-reported, aggregate data are summarized for the first 196 enrolled patients, representing participation from 42 countries and approximately 25% of the world's known FOP population. Fifty-seven percent of the current Registry participants are female with a mean age of 23.8years (median=21years, range=1, 76years). Among the Registry participants who provided their FOP type, 51% reported FOP Classic (R206H), 41% reported FOP Type Unknown, and 8% reported FOP Variant. Patients reported 5.4years (median=3.0years, range=0, 45.8years) as the mean age at which they noticed their first FOP symptoms and a mean age at final FOP diagnosis of 7.5years (median=5.0years, range=0.1, 48.4years). Information on the patients' diagnostic journeys in arriving at a correct diagnosis of FOP is also presented. These early patient-reported data suggest that the IFOPA's vision of one, unified, global, and coordinated approach to the FOP Connection Registry is well underway to being realized. In addition, the positive response from the FOP patient community to the initial launch of the Registry's patient portal has created a solid foundation upon which to build the largest international registry for monitoring the clinical progression of FOP among patients.</AbstractText><CopyrightInformation>Copyright © 2017 Elsevier Inc. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Mantick</LastName><ForeName>Neal</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>International FOP Association, 1520 Clay St, Suite H2, North Kansas City, MO 64116, USA. Electronic address: mantick.consulting@comcast.net.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bachman</LastName><ForeName>Eric</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Alexion Pharmaceuticals, 33 Hayden Parkway, Lexington, MA 02421, USA. Electronic address: Eric.Bachman@alexion.com.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baujat</LastName><ForeName>Genevieve</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Imagine Institut, Necker Hospital, 149 rue de Sèvres, 75015 Paris, France. Electronic address: genevieve.baujat@nck.aphp.fr.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brown</LastName><ForeName>Matt</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Queensland University of Technology, 2 George Street Brisbane, Queensland 4001, Australia. Electronic address: matt.brown@qut.edu.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Collins</LastName><ForeName>Oliver</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>FOP, Australia(1).</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>De Cunto</LastName><ForeName>Carmen</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Hospital Italiano de Buenos Aires, Juan D. Perón 4190, C1199ABB Ciudad Autónoma de Buenos Aires, Argentina. Electronic address: carmen.decunto@hospitalitaliano.org.ar.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Delai</LastName><ForeName>Patricia</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Santa Casa de Misericordia de São Paulo, Rua Santa Isabel, 305, 5° andar-Vila Buarque, CEP: 01221-010 São Paulo, SP, Brazil.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Eekhoff</LastName><ForeName>Marelise</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Internal Medicine, Section Endocrinology, VU University Medical Centre, De Boelelaan 1117, 1081 HV Amsterdam, Netherlands. Electronic address: EMW.Eekhoff@vumc.nl.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zum Felde</LastName><ForeName>Roger</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>FOP e.V., Germany(2).</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Grogan</LastName><ForeName>Donna Roy</ForeName><Initials>DR</Initials><AffiliationInfo><Affiliation>Clementia Pharmaceuticals, 275 Grove Street, Suite 2-400, Auburndale, MA 02466, USA. Electronic address: dgrogan@clementiapharma.com.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Haga</LastName><ForeName>Nobuhiko</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>The University of Tokyo, 7-3-1 Hongo, Bunkyō, Tokyo 113-8654, Japan. Electronic address: hagan-reh@h.u-tokyo.ac.jp.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hsiao</LastName><ForeName>Edward</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>University of California-San Francisco, 513 Parnassus Avenue, Room HSE901G, San Francisco, CA 94143-0794, USA. Electronic address: Edward.Hsiao@ucsf.edu.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kantanie</LastName><ForeName>Sharon</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>International FOP Association, 1520 Clay St, Suite H2, North Kansas City, MO 64116, USA. Electronic address: together@ifopa.org.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kaplan</LastName><ForeName>Frederick</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Perelman School of Medicine, The University of Pennsylvania, c/o Department of Orthopaedic Surgery, Penn Musculoskeletal Center-Suite 600, 3737 Market Street, Philadelphia, PA 19104, USA. Electronic address: Frederick.Kaplan@uphs.upenn.edu.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Keen</LastName><ForeName>Richard</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Royal National Orthopaedic Hospital, Stanmore HA7 4LP, UK. Electronic address: Richard.Keen@rnoh.nhs.uk.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Milosevic</LastName><ForeName>Jelena</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>FOP, Serbia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Morhart</LastName><ForeName>Rolf</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Triftstr.12, 82467 Garmisch-Partenkirchen, Germany. Electronic address: rmorhart@web.de.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pignolo</LastName><ForeName>Robert</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Robert Pignolo, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address: Pignolo.Robert@mayo.edu.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Qian</LastName><ForeName>Xiaobing</ForeName><Initials>X</Initials><AffiliationInfo><Affiliation>Regeneron Pharmaceuticals, 777 Old Saw Mill River Road, Tarrytown, NY 10591, USA. Electronic address: Xiaobing.Qian@regeneron.com.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>di Rocco</LastName><ForeName>Maja</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy. Electronic address: Majadirocco@gaslini.org.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Scott</LastName><ForeName>Christiaan</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Red Cross War Memorial Children's Hospital, Room 515, ICH Building, Klipfontein Road, Rondebosch, Cape Town 7700, South Africa. Electronic address: chris.scott@uct.ac.za.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sherman</LastName><ForeName>Adam</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>International FOP Association, 1520 Clay St, Suite H2, North Kansas City, MO 64116, USA. Electronic address: adam.sherman@ifopa.org.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wallace</LastName><ForeName>Marin</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Canadian FOP Network, Canada(3).</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Williams</LastName><ForeName>Nicky</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>FOP Friends (FOP Action), UK(4).</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Keqin</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Tongji Hospital, Shanghai Tongji University, 389 Xin Cun Road, Shanghai 200065, PR China. Electronic address: keqzhang2007@126.com.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bogard</LastName><ForeName>Betsy</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>International FOP Association, 1520 Clay St, Suite H2, North Kansas City, MO 64116, USA. Electronic address: betsy.bogard@ifopa.org.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>09</Month><Day>01</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Bone</MedlineTA><NlmUniqueID>8504048</NlmUniqueID><ISSNLinking>1873-2763</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Fibrodysplasia Ossificans Progressiva</Keyword><Keyword MajorTopicYN="N">Heterotopic ossification</Keyword><Keyword MajorTopicYN="N">International FOP Association</Keyword><Keyword MajorTopicYN="N">Natural history</Keyword><Keyword MajorTopicYN="N">Patient-reported</Keyword><Keyword MajorTopicYN="N">Registry</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2017</Year><Month>06</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2017</Year><Month>08</Month><Day>29</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2017</Year><Month>08</Month><Day>29</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>9</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>9</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>9</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>aheadofprint</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28866367</ArticleId><ArticleId IdType="pii">S8756-3282(17)30327-7</ArticleId><ArticleId IdType="doi">10.1016/j.bone.2017.08.032</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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