EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.
Identifieur interne : 000336 ( Hal/Curation ); précédent : 000335; suivant : 000337EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.
Auteurs : Amy Farmer [Royaume-Uni] ; Ségolène Aymé [France] ; Miguel De Heredia [Espagne] ; Pietro Maffei [Italie] ; Susan Mccafferty [Royaume-Uni] ; Wojciech Młynarski [Pologne] ; Virginia Nunes [Espagne] ; Kay Parkinson [Royaume-Uni] ; Véronique Paquis-Flucklinger [France] ; Julia Rohayem [Allemagne] ; Richard Sinnott [Australie] ; Vallo Tillmann [Estonie] ; Lisbeth Tranebj Rg [Danemark] ; Timothy Barrett [Royaume-Uni]Source :
- BMC Pediatrics [ 1471-2431 ] ; 2013-08-27.
Abstract
BACKGROUND: Wolfram, Alstrom and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research. METHODS: EURO-WABB is an international multicenter large-scale observational study capturing longitudinal clinical and outcome data for patients with WABB diagnoses. Three hundred participants will be recruited over 3 years from different sites throughout Europe. Comprehensive clinical, genetic and patient experience data will be collated into an anonymized disease registry. Data collection will be web-based, and forms part of the project's Virtual Research and Information Environment (VRIE). Participants who haven't undergone genetic diagnostic testing for their condition will be able to do so via the project. CONCLUSIONS: The registry data will be used to increase the understanding of the natural history of WABB diseases, to serve as an evidence base for clinical management, and to aid the identification of opportunities for intervention to stop or delay the progress of the disease. The detailed clinical characterisation will allow inclusion of patients into studies of novel treatment interventions, including targeted interventions in small scale open label studies; and enrolment into multi-national clinical trials. The registry will also support wider access to genetic testing, and encourage international collaborations for patient benefit.
Url:
DOI: 10.1186/1471-2431-13-130
Links toward previous steps (curation, corpus...)
- to stream Hal, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000346
Links to Exploration step
Hal:inserm-00868749Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.</title>
<author><name sortKey="Farmer, Amy" sort="Farmer, Amy" uniqKey="Farmer A" first="Amy" last="Farmer">Amy Farmer</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-150160" status="INCOMING"> <orgName>Birmingham Children's Hospital</orgName>
<desc> <address> <country key="GB"></country>
</address>
</desc>
<listRelation> <relation active="#struct-333405" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-333405" type="direct"><org type="institution" xml:id="struct-333405" status="INCOMING"> <orgName>Birmingham Children's Hospital</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Ayme, Segolene" sort="Ayme, Segolene" uniqKey="Ayme S" first="Ségolène" last="Aymé">Ségolène Aymé</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-183605" status="OLD"> <orgName>Orphanet - Plateforme maladies rares</orgName>
<desc> <address> <addrLine>96, rue Didot, Paris 75014, France</addrLine>
<country key="FR"></country>
</address>
</desc>
<listRelation> <relation name="SC11" active="#struct-303623" type="direct"></relation>
</listRelation>
<tutelles><tutelle name="SC11" active="#struct-303623" type="direct"><org type="institution" xml:id="struct-303623" status="VALID"> <idno type="IdRef">026388278</idno>
<orgName>Institut National de la Santé et de la Recherche Médicale</orgName>
<orgName type="acronym">INSERM</orgName>
<desc> <address> <addrLine>101, rue de Tolbiac, 75013 Paris </addrLine>
<country key="FR"></country>
</address>
<ref type="url">http://www.inserm.fr</ref>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>France</country>
</affiliation>
</author>
<author><name sortKey="De Heredia, Miguel" sort="De Heredia, Miguel" uniqKey="De Heredia M" first="Miguel" last="De Heredia">Miguel De Heredia</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232508" status="INCOMING"> <orgName>IDIBELL</orgName>
<desc> <address> <addrLine>3ª Planta, Gran Via de L'Hospitalet, 199, E-08907- L'Hospitalet de Llobregat, Barcelona</addrLine>
<country key="ES"></country>
</address>
</desc>
<listRelation> <relation active="#struct-346056" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-346056" type="direct"><org type="institution" xml:id="struct-346056" status="INCOMING"> <orgName>Hospital Duran i Reynals</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Maffei, Pietro" sort="Maffei, Pietro" uniqKey="Maffei P" first="Pietro" last="Maffei">Pietro Maffei</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232510" status="INCOMING"> <orgName>Department of Medicine</orgName>
<desc> <address> <addrLine>Giustiniani 2, Padua</addrLine>
<country key="IT"></country>
</address>
</desc>
<listRelation> <relation active="#struct-301093" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-301093" type="direct"><org type="institution" xml:id="struct-301093" status="VALID"> <orgName>Università degli Studi di Padova [Padova]</orgName>
<desc> <address> <addrLine>Via 8 Febbraio, 235122 Padova</addrLine>
<country key="IT"></country>
</address>
<ref type="url">http://www.unipd.it/</ref>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Italie</country>
</affiliation>
</author>
<author><name sortKey="Mccafferty, Susan" sort="Mccafferty, Susan" uniqKey="Mccafferty S" first="Susan" last="Mccafferty">Susan Mccafferty</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232511" status="INCOMING"> <orgName>National eScience Centre</orgName>
<desc> <address> <addrLine>246D, Kelvin Building, Glasgow G12 8QQ</addrLine>
<country key="GB"></country>
</address>
</desc>
<listRelation> <relation active="#struct-356362" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-356362" type="direct"><org type="institution" xml:id="struct-356362" status="INCOMING"> <orgName>National eScience Centre</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Mlynarski, Wojciech" sort="Mlynarski, Wojciech" uniqKey="Mlynarski W" first="Wojciech" last="Młynarski">Wojciech Młynarski</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232512" status="INCOMING"> <orgName>Department of Paediatrics</orgName>
<desc> <address> <addrLine>4 Kosciuszki Avenue, Lodz PL-90-419</addrLine>
<country key="PL"></country>
</address>
</desc>
<listRelation> <relation active="#struct-313182" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-313182" type="direct"><org type="institution" xml:id="struct-313182" status="INCOMING"> <orgName>Medical university of Lodz</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Pologne</country>
</affiliation>
</author>
<author><name sortKey="Nunes, Virginia" sort="Nunes, Virginia" uniqKey="Nunes V" first="Virginia" last="Nunes">Virginia Nunes</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232508" status="INCOMING"> <orgName>IDIBELL</orgName>
<desc> <address> <addrLine>3ª Planta, Gran Via de L'Hospitalet, 199, E-08907- L'Hospitalet de Llobregat, Barcelona</addrLine>
<country key="ES"></country>
</address>
</desc>
<listRelation> <relation active="#struct-346056" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-346056" type="direct"><org type="institution" xml:id="struct-346056" status="INCOMING"> <orgName>Hospital Duran i Reynals</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Parkinson, Kay" sort="Parkinson, Kay" uniqKey="Parkinson K" first="Kay" last="Parkinson">Kay Parkinson</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232516" status="INCOMING"> <orgName>Alström Syndrome UK</orgName>
<desc> <address> <addrLine>49 Southfield Avenue, Paignton, S. Devon TQ3 1LH</addrLine>
<country key="GB"></country>
</address>
</desc>
<listRelation> <relation active="#struct-350725" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-350725" type="direct"><org type="institution" xml:id="struct-350725" status="INCOMING"> <orgName>Alstrom Syndrome UK</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Paquis Flucklinger, Veronique" sort="Paquis Flucklinger, Veronique" uniqKey="Paquis Flucklinger V" first="Véronique" last="Paquis-Flucklinger">Véronique Paquis-Flucklinger</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-182186" status="VALID"> <orgName>Institut de Recherche sur le Cancer et le Vieillissement</orgName>
<orgName type="acronym">IRCAN</orgName>
<desc> <address> <addrLine>Faculté de médecine, 28 avenue de Valombrose 06107 Nice Cedex 2</addrLine>
<country key="FR"></country>
</address>
</desc>
<listRelation> <relation name="UMR7284" active="#struct-441569" type="direct"></relation>
<relation name="U1081" active="#struct-303623" type="direct"></relation>
<relation active="#struct-117617" type="direct"></relation>
</listRelation>
<tutelles><tutelle name="UMR7284" active="#struct-441569" type="direct"><org type="institution" xml:id="struct-441569" status="VALID"> <idno type="IdRef">02636817X</idno>
<idno type="ISNI">0000000122597504</idno>
<orgName>Centre National de la Recherche Scientifique</orgName>
<orgName type="acronym">CNRS</orgName>
<date type="start">1939-10-19</date>
<desc> <address> <country key="FR"></country>
</address>
<ref type="url">http://www.cnrs.fr/</ref>
</desc>
</org>
</tutelle>
<tutelle name="U1081" active="#struct-303623" type="direct"><org type="institution" xml:id="struct-303623" status="VALID"> <idno type="IdRef">026388278</idno>
<orgName>Institut National de la Santé et de la Recherche Médicale</orgName>
<orgName type="acronym">INSERM</orgName>
<desc> <address> <addrLine>101, rue de Tolbiac, 75013 Paris </addrLine>
<country key="FR"></country>
</address>
<ref type="url">http://www.inserm.fr</ref>
</desc>
</org>
</tutelle>
<tutelle active="#struct-117617" type="direct"><org type="institution" xml:id="struct-117617" status="VALID"> <orgName>Université Nice Sophia Antipolis</orgName>
<orgName type="acronym">UNS</orgName>
<desc> <address> <addrLine>Parc Valrose - BP 2135 - 06103 Nice cedex 2</addrLine>
<country key="FR"></country>
</address>
<ref type="url">http://unice.fr/</ref>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>France</country>
<placeName><settlement type="city">Nice</settlement>
<region type="region" nuts="2">Provence-Alpes-Côte d'Azur</region>
</placeName>
<orgName type="university">Université Nice Sophia Antipolis</orgName>
</affiliation>
</author>
<author><name sortKey="Rohayem, Julia" sort="Rohayem, Julia" uniqKey="Rohayem J" first="Julia" last="Rohayem">Julia Rohayem</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232518" status="INCOMING"> <orgName>Centrum für Reproduktionsmedizin und Andrologie</orgName>
<desc> <address> <addrLine>EAA, Ausbildungszentrum, Domagkstraße 11, Münster 48149</addrLine>
<country key="DE"></country>
</address>
</desc>
<listRelation> <relation active="#struct-333017" type="direct"></relation>
<relation active="#struct-356240" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-333017" type="direct"><org type="institution" xml:id="struct-333017" status="INCOMING"> <orgName>Universitätsklinikum Münster</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
<tutelle active="#struct-356240" type="direct"><org type="institution" xml:id="struct-356240" status="INCOMING"> <orgName>WHO Kollaborationszentrum</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Allemagne</country>
</affiliation>
</author>
<author><name sortKey="Sinnott, Richard" sort="Sinnott, Richard" uniqKey="Sinnott R" first="Richard" last="Sinnott">Richard Sinnott</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-188163" status="INCOMING"> <orgName>The University of Melbourne</orgName>
<desc> <address> <country key="AU"></country>
</address>
</desc>
<listRelation> <relation active="#struct-306322" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-306322" type="direct"><org type="institution" xml:id="struct-306322" status="VALID"> <orgName>University of Melbourne</orgName>
<desc> <address> <addrLine>Parkville VIC 3010</addrLine>
<country key="AU"></country>
</address>
<ref type="url">http://www.unimelb.edu.au/</ref>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Australie</country>
</affiliation>
</author>
<author><name sortKey="Tillmann, Vallo" sort="Tillmann, Vallo" uniqKey="Tillmann V" first="Vallo" last="Tillmann">Vallo Tillmann</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232520" status="INCOMING"> <orgName>Tartu University Children's Hospital</orgName>
<desc> <address> <addrLine>Lunini 6, Tartu 51014</addrLine>
<country key="EE"></country>
</address>
</desc>
<listRelation> <relation active="#struct-356363" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-356363" type="direct"><org type="institution" xml:id="struct-356363" status="INCOMING"> <orgName>Tartu University Children's Hospital</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Estonie</country>
</affiliation>
</author>
<author><name sortKey="Tranebj Rg, Lisbeth" sort="Tranebj Rg, Lisbeth" uniqKey="Tranebj Rg L" first="Lisbeth" last="Tranebj Rg">Lisbeth Tranebj Rg</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232521" status="INCOMING"> <orgName>Department of Audiology</orgName>
<desc> <address> <addrLine>Bispebjerg Bakke 23, Copenhagen, NV DK- 2400</addrLine>
<country key="DK"></country>
</address>
</desc>
<listRelation> <relation active="#struct-356241" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-356241" type="direct"><org type="institution" xml:id="struct-356241" status="INCOMING"> <orgName>H:S Bispebjerg Hospital</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Danemark</country>
</affiliation>
</author>
<author><name sortKey="Barrett, Timothy" sort="Barrett, Timothy" uniqKey="Barrett T" first="Timothy" last="Barrett">Timothy Barrett</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232523" status="INCOMING"> <orgName>School of Clinical and Experimental Medicine</orgName>
<desc> <address> <addrLine>Birmingham B15 2TT, Edgbaston</addrLine>
<country key="GB"></country>
</address>
</desc>
<listRelation> <relation active="#struct-329494" type="direct"></relation>
<relation active="#struct-421435" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-329494" type="direct"><org type="institution" xml:id="struct-329494" status="INCOMING"> <orgName>College of Medical and Dental Sciences</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
<tutelle active="#struct-421435" type="direct"><org type="institution" xml:id="struct-421435" status="VALID"> <orgName>University of Birmingham [Birmingham]</orgName>
<desc> <address> <addrLine>EdgbastonBirmingham B15 2TT</addrLine>
<country key="GB"></country>
</address>
<ref type="url">http://www.birmingham.ac.uk/</ref>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Royaume-Uni</country>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">HAL</idno>
<idno type="RBID">Hal:inserm-00868749</idno>
<idno type="halId">inserm-00868749</idno>
<idno type="halUri">http://www.hal.inserm.fr/inserm-00868749</idno>
<idno type="url">http://www.hal.inserm.fr/inserm-00868749</idno>
<idno type="doi">10.1186/1471-2431-13-130</idno>
<date when="2013-08-27">2013-08-27</date>
<idno type="wicri:Area/Hal/Corpus">000346</idno>
<idno type="wicri:Area/Hal/Curation">000346</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.</title>
<author><name sortKey="Farmer, Amy" sort="Farmer, Amy" uniqKey="Farmer A" first="Amy" last="Farmer">Amy Farmer</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-150160" status="INCOMING"> <orgName>Birmingham Children's Hospital</orgName>
<desc> <address> <country key="GB"></country>
</address>
</desc>
<listRelation> <relation active="#struct-333405" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-333405" type="direct"><org type="institution" xml:id="struct-333405" status="INCOMING"> <orgName>Birmingham Children's Hospital</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Ayme, Segolene" sort="Ayme, Segolene" uniqKey="Ayme S" first="Ségolène" last="Aymé">Ségolène Aymé</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-183605" status="OLD"> <orgName>Orphanet - Plateforme maladies rares</orgName>
<desc> <address> <addrLine>96, rue Didot, Paris 75014, France</addrLine>
<country key="FR"></country>
</address>
</desc>
<listRelation> <relation name="SC11" active="#struct-303623" type="direct"></relation>
</listRelation>
<tutelles><tutelle name="SC11" active="#struct-303623" type="direct"><org type="institution" xml:id="struct-303623" status="VALID"> <idno type="IdRef">026388278</idno>
<orgName>Institut National de la Santé et de la Recherche Médicale</orgName>
<orgName type="acronym">INSERM</orgName>
<desc> <address> <addrLine>101, rue de Tolbiac, 75013 Paris </addrLine>
<country key="FR"></country>
</address>
<ref type="url">http://www.inserm.fr</ref>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>France</country>
</affiliation>
</author>
<author><name sortKey="De Heredia, Miguel" sort="De Heredia, Miguel" uniqKey="De Heredia M" first="Miguel" last="De Heredia">Miguel De Heredia</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232508" status="INCOMING"> <orgName>IDIBELL</orgName>
<desc> <address> <addrLine>3ª Planta, Gran Via de L'Hospitalet, 199, E-08907- L'Hospitalet de Llobregat, Barcelona</addrLine>
<country key="ES"></country>
</address>
</desc>
<listRelation> <relation active="#struct-346056" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-346056" type="direct"><org type="institution" xml:id="struct-346056" status="INCOMING"> <orgName>Hospital Duran i Reynals</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Maffei, Pietro" sort="Maffei, Pietro" uniqKey="Maffei P" first="Pietro" last="Maffei">Pietro Maffei</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232510" status="INCOMING"> <orgName>Department of Medicine</orgName>
<desc> <address> <addrLine>Giustiniani 2, Padua</addrLine>
<country key="IT"></country>
</address>
</desc>
<listRelation> <relation active="#struct-301093" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-301093" type="direct"><org type="institution" xml:id="struct-301093" status="VALID"> <orgName>Università degli Studi di Padova [Padova]</orgName>
<desc> <address> <addrLine>Via 8 Febbraio, 235122 Padova</addrLine>
<country key="IT"></country>
</address>
<ref type="url">http://www.unipd.it/</ref>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Italie</country>
</affiliation>
</author>
<author><name sortKey="Mccafferty, Susan" sort="Mccafferty, Susan" uniqKey="Mccafferty S" first="Susan" last="Mccafferty">Susan Mccafferty</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232511" status="INCOMING"> <orgName>National eScience Centre</orgName>
<desc> <address> <addrLine>246D, Kelvin Building, Glasgow G12 8QQ</addrLine>
<country key="GB"></country>
</address>
</desc>
<listRelation> <relation active="#struct-356362" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-356362" type="direct"><org type="institution" xml:id="struct-356362" status="INCOMING"> <orgName>National eScience Centre</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Mlynarski, Wojciech" sort="Mlynarski, Wojciech" uniqKey="Mlynarski W" first="Wojciech" last="Młynarski">Wojciech Młynarski</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232512" status="INCOMING"> <orgName>Department of Paediatrics</orgName>
<desc> <address> <addrLine>4 Kosciuszki Avenue, Lodz PL-90-419</addrLine>
<country key="PL"></country>
</address>
</desc>
<listRelation> <relation active="#struct-313182" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-313182" type="direct"><org type="institution" xml:id="struct-313182" status="INCOMING"> <orgName>Medical university of Lodz</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Pologne</country>
</affiliation>
</author>
<author><name sortKey="Nunes, Virginia" sort="Nunes, Virginia" uniqKey="Nunes V" first="Virginia" last="Nunes">Virginia Nunes</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232508" status="INCOMING"> <orgName>IDIBELL</orgName>
<desc> <address> <addrLine>3ª Planta, Gran Via de L'Hospitalet, 199, E-08907- L'Hospitalet de Llobregat, Barcelona</addrLine>
<country key="ES"></country>
</address>
</desc>
<listRelation> <relation active="#struct-346056" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-346056" type="direct"><org type="institution" xml:id="struct-346056" status="INCOMING"> <orgName>Hospital Duran i Reynals</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Espagne</country>
</affiliation>
</author>
<author><name sortKey="Parkinson, Kay" sort="Parkinson, Kay" uniqKey="Parkinson K" first="Kay" last="Parkinson">Kay Parkinson</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232516" status="INCOMING"> <orgName>Alström Syndrome UK</orgName>
<desc> <address> <addrLine>49 Southfield Avenue, Paignton, S. Devon TQ3 1LH</addrLine>
<country key="GB"></country>
</address>
</desc>
<listRelation> <relation active="#struct-350725" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-350725" type="direct"><org type="institution" xml:id="struct-350725" status="INCOMING"> <orgName>Alstrom Syndrome UK</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Paquis Flucklinger, Veronique" sort="Paquis Flucklinger, Veronique" uniqKey="Paquis Flucklinger V" first="Véronique" last="Paquis-Flucklinger">Véronique Paquis-Flucklinger</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-182186" status="VALID"> <orgName>Institut de Recherche sur le Cancer et le Vieillissement</orgName>
<orgName type="acronym">IRCAN</orgName>
<desc> <address> <addrLine>Faculté de médecine, 28 avenue de Valombrose 06107 Nice Cedex 2</addrLine>
<country key="FR"></country>
</address>
</desc>
<listRelation> <relation name="UMR7284" active="#struct-441569" type="direct"></relation>
<relation name="U1081" active="#struct-303623" type="direct"></relation>
<relation active="#struct-117617" type="direct"></relation>
</listRelation>
<tutelles><tutelle name="UMR7284" active="#struct-441569" type="direct"><org type="institution" xml:id="struct-441569" status="VALID"> <idno type="IdRef">02636817X</idno>
<idno type="ISNI">0000000122597504</idno>
<orgName>Centre National de la Recherche Scientifique</orgName>
<orgName type="acronym">CNRS</orgName>
<date type="start">1939-10-19</date>
<desc> <address> <country key="FR"></country>
</address>
<ref type="url">http://www.cnrs.fr/</ref>
</desc>
</org>
</tutelle>
<tutelle name="U1081" active="#struct-303623" type="direct"><org type="institution" xml:id="struct-303623" status="VALID"> <idno type="IdRef">026388278</idno>
<orgName>Institut National de la Santé et de la Recherche Médicale</orgName>
<orgName type="acronym">INSERM</orgName>
<desc> <address> <addrLine>101, rue de Tolbiac, 75013 Paris </addrLine>
<country key="FR"></country>
</address>
<ref type="url">http://www.inserm.fr</ref>
</desc>
</org>
</tutelle>
<tutelle active="#struct-117617" type="direct"><org type="institution" xml:id="struct-117617" status="VALID"> <orgName>Université Nice Sophia Antipolis</orgName>
<orgName type="acronym">UNS</orgName>
<desc> <address> <addrLine>Parc Valrose - BP 2135 - 06103 Nice cedex 2</addrLine>
<country key="FR"></country>
</address>
<ref type="url">http://unice.fr/</ref>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>France</country>
<placeName><settlement type="city">Nice</settlement>
<region type="region" nuts="2">Provence-Alpes-Côte d'Azur</region>
</placeName>
<orgName type="university">Université Nice Sophia Antipolis</orgName>
</affiliation>
</author>
<author><name sortKey="Rohayem, Julia" sort="Rohayem, Julia" uniqKey="Rohayem J" first="Julia" last="Rohayem">Julia Rohayem</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232518" status="INCOMING"> <orgName>Centrum für Reproduktionsmedizin und Andrologie</orgName>
<desc> <address> <addrLine>EAA, Ausbildungszentrum, Domagkstraße 11, Münster 48149</addrLine>
<country key="DE"></country>
</address>
</desc>
<listRelation> <relation active="#struct-333017" type="direct"></relation>
<relation active="#struct-356240" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-333017" type="direct"><org type="institution" xml:id="struct-333017" status="INCOMING"> <orgName>Universitätsklinikum Münster</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
<tutelle active="#struct-356240" type="direct"><org type="institution" xml:id="struct-356240" status="INCOMING"> <orgName>WHO Kollaborationszentrum</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Allemagne</country>
</affiliation>
</author>
<author><name sortKey="Sinnott, Richard" sort="Sinnott, Richard" uniqKey="Sinnott R" first="Richard" last="Sinnott">Richard Sinnott</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-188163" status="INCOMING"> <orgName>The University of Melbourne</orgName>
<desc> <address> <country key="AU"></country>
</address>
</desc>
<listRelation> <relation active="#struct-306322" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-306322" type="direct"><org type="institution" xml:id="struct-306322" status="VALID"> <orgName>University of Melbourne</orgName>
<desc> <address> <addrLine>Parkville VIC 3010</addrLine>
<country key="AU"></country>
</address>
<ref type="url">http://www.unimelb.edu.au/</ref>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Australie</country>
</affiliation>
</author>
<author><name sortKey="Tillmann, Vallo" sort="Tillmann, Vallo" uniqKey="Tillmann V" first="Vallo" last="Tillmann">Vallo Tillmann</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232520" status="INCOMING"> <orgName>Tartu University Children's Hospital</orgName>
<desc> <address> <addrLine>Lunini 6, Tartu 51014</addrLine>
<country key="EE"></country>
</address>
</desc>
<listRelation> <relation active="#struct-356363" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-356363" type="direct"><org type="institution" xml:id="struct-356363" status="INCOMING"> <orgName>Tartu University Children's Hospital</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Estonie</country>
</affiliation>
</author>
<author><name sortKey="Tranebj Rg, Lisbeth" sort="Tranebj Rg, Lisbeth" uniqKey="Tranebj Rg L" first="Lisbeth" last="Tranebj Rg">Lisbeth Tranebj Rg</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232521" status="INCOMING"> <orgName>Department of Audiology</orgName>
<desc> <address> <addrLine>Bispebjerg Bakke 23, Copenhagen, NV DK- 2400</addrLine>
<country key="DK"></country>
</address>
</desc>
<listRelation> <relation active="#struct-356241" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-356241" type="direct"><org type="institution" xml:id="struct-356241" status="INCOMING"> <orgName>H:S Bispebjerg Hospital</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Danemark</country>
</affiliation>
</author>
<author><name sortKey="Barrett, Timothy" sort="Barrett, Timothy" uniqKey="Barrett T" first="Timothy" last="Barrett">Timothy Barrett</name>
<affiliation wicri:level="1"><hal:affiliation type="laboratory" xml:id="struct-232523" status="INCOMING"> <orgName>School of Clinical and Experimental Medicine</orgName>
<desc> <address> <addrLine>Birmingham B15 2TT, Edgbaston</addrLine>
<country key="GB"></country>
</address>
</desc>
<listRelation> <relation active="#struct-329494" type="direct"></relation>
<relation active="#struct-421435" type="direct"></relation>
</listRelation>
<tutelles><tutelle active="#struct-329494" type="direct"><org type="institution" xml:id="struct-329494" status="INCOMING"> <orgName>College of Medical and Dental Sciences</orgName>
<desc> <address> <country key="FR"></country>
</address>
</desc>
</org>
</tutelle>
<tutelle active="#struct-421435" type="direct"><org type="institution" xml:id="struct-421435" status="VALID"> <orgName>University of Birmingham [Birmingham]</orgName>
<desc> <address> <addrLine>EdgbastonBirmingham B15 2TT</addrLine>
<country key="GB"></country>
</address>
<ref type="url">http://www.birmingham.ac.uk/</ref>
</desc>
</org>
</tutelle>
</tutelles>
</hal:affiliation>
<country>Royaume-Uni</country>
</affiliation>
</author>
</analytic>
<idno type="DOI">10.1186/1471-2431-13-130</idno>
<series><title level="j">BMC Pediatrics</title>
<idno type="ISSN">1471-2431</idno>
<imprint><date type="datePub">2013-08-27</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="mix" xml:lang="af"><term>Alström</term>
<term>Bardet-Biedl</term>
<term>Diabetes</term>
<term>Patient registries</term>
<term>Rare diseases</term>
<term>Wolfram</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">BACKGROUND: Wolfram, Alstrom and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research. METHODS: EURO-WABB is an international multicenter large-scale observational study capturing longitudinal clinical and outcome data for patients with WABB diagnoses. Three hundred participants will be recruited over 3 years from different sites throughout Europe. Comprehensive clinical, genetic and patient experience data will be collated into an anonymized disease registry. Data collection will be web-based, and forms part of the project's Virtual Research and Information Environment (VRIE). Participants who haven't undergone genetic diagnostic testing for their condition will be able to do so via the project. CONCLUSIONS: The registry data will be used to increase the understanding of the natural history of WABB diseases, to serve as an evidence base for clinical management, and to aid the identification of opportunities for intervention to stop or delay the progress of the disease. The detailed clinical characterisation will allow inclusion of patients into studies of novel treatment interventions, including targeted interventions in small scale open label studies; and enrolment into multi-national clinical trials. The registry will also support wider access to genetic testing, and encourage international collaborations for patient benefit.</div>
</front>
</TEI>
<hal api="V3"> <titleStmt> <title xml:lang="en">EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.</title>
<author role="aut"> <persName> <forename type="first">Amy</forename>
<surname>Farmer</surname>
</persName>
<email type="md5">0a66aeff319aee5fba2e0dcde88f5b3e</email>
<email type="domain">bch.nhs.uk</email>
<idno type="halauthorid">894895</idno>
<affiliation ref="#struct-150160"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Ségolène</forename>
<surname>Aymé</surname>
</persName>
<email type="md5">49be183b633367aa220258019499e51e</email>
<email type="domain">inserm.fr</email>
<idno type="halauthorid">611886</idno>
<affiliation ref="#struct-183605"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Miguel</forename>
<forename type="middle">Lopez</forename>
<surname>De Heredia</surname>
</persName>
<email type="md5">52d76dcca16e7dacde401d0b8cf440eb</email>
<email type="domain">idibell.cat</email>
<idno type="halauthorid">894896</idno>
<affiliation ref="#struct-232508"></affiliation>
<affiliation ref="#struct-232509"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Pietro</forename>
<surname>Maffei</surname>
</persName>
<email type="md5">96baa21c9503475d0881873ddaf48688</email>
<email type="domain">libero.it</email>
<idno type="halauthorid">894897</idno>
<affiliation ref="#struct-232510"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Susan</forename>
<surname>McCafferty</surname>
</persName>
<email type="md5">0aaa863d7589777387b69c51b0c1f304</email>
<email type="domain">glasgow.ac.uk</email>
<idno type="halauthorid">894898</idno>
<affiliation ref="#struct-232511"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Wojciech</forename>
<surname>Młynarski</surname>
</persName>
<email type="md5">2feee3ceadcc96a6ad9e18e5fd8ce722</email>
<email type="domain">joslin.harvard.edu</email>
<idno type="halauthorid">894899</idno>
<affiliation ref="#struct-232512"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Virginia</forename>
<surname>Nunes</surname>
</persName>
<email type="md5">4f0fcfad721d1cfff09405d2ba14e917</email>
<email type="domain">idibell.cat</email>
<idno type="halauthorid">894900</idno>
<affiliation ref="#struct-232508"></affiliation>
<affiliation ref="#struct-232509"></affiliation>
<affiliation ref="#struct-232515"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Kay</forename>
<surname>Parkinson</surname>
</persName>
<email type="md5">361ddfab795b2d580014db131f13b883</email>
<email type="domain">alstrom.org.uk</email>
<idno type="halauthorid">894901</idno>
<affiliation ref="#struct-232516"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Véronique</forename>
<surname>Paquis-Flucklinger</surname>
</persName>
<email type="md5">7aa1ca2c9d0efc10808bcc97e1f75624</email>
<email type="domain">unice.fr</email>
<idno type="halauthorid">894902</idno>
<affiliation ref="#struct-182186"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Julia</forename>
<surname>Rohayem</surname>
</persName>
<email type="md5">f223882abbfdb510f4008fbf51abbf29</email>
<email type="domain">ukmuenster.de</email>
<idno type="halauthorid">894903</idno>
<affiliation ref="#struct-232518"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Richard</forename>
<surname>Sinnott</surname>
</persName>
<email type="md5">b0bdbff2ce0ba084a67a4bb9e65a06c8</email>
<email type="domain">unimelb.edu.au</email>
<idno type="halauthorid">894904</idno>
<affiliation ref="#struct-188163"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Vallo</forename>
<surname>Tillmann</surname>
</persName>
<email type="md5">25f254b4e821458f8f9d158f8d1c1524</email>
<email type="domain">kliinikum.ee</email>
<idno type="halauthorid">894905</idno>
<affiliation ref="#struct-232520"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Lisbeth</forename>
<surname>Tranebjærg</surname>
</persName>
<email type="md5">b90a21e5eca619d85c123cbca8b66208</email>
<email type="domain">sund.ku.dk</email>
<idno type="halauthorid">894906</idno>
<affiliation ref="#struct-232521"></affiliation>
<affiliation ref="#struct-232522"></affiliation>
</author>
<author role="crp"> <persName> <forename type="first">Timothy</forename>
<surname>Barrett</surname>
</persName>
<email type="md5">525fcd545f7922a3f55d72d5524da6c5</email>
<email type="domain">bham.ac.uk</email>
<idno type="halauthorid">786291</idno>
<affiliation ref="#struct-232523"></affiliation>
</author>
<editor role="depositor"> <persName> <forename>Ed.</forename>
<surname>BMC</surname>
</persName>
<email type="md5">440c6e58a5bd861e373d54bc5e68a1a4</email>
<email type="domain">biomedcentral.com</email>
</editor>
<funder>The EURO-WABB project has received funding from the European Union, in the framework of the Health Programme (Grant Agreement Reference: 2010 12 05)</funder>
</titleStmt>
<editionStmt> <edition n="v1" type="current"> <date type="whenSubmitted">2013-10-01 21:30:39</date>
<date type="whenModified">2015-04-08 16:34:28</date>
<date type="whenReleased">2013-10-08 19:16:49</date>
<date type="whenProduced">2013-08-27</date>
<date type="whenEndEmbargoed">2013-10-01</date>
<ref type="file" target="http://www.hal.inserm.fr/inserm-00868749/document"> <date notBefore="2013-10-01"></date>
</ref>
<ref type="file" subtype="greenPublisher" n="1" target="http://www.hal.inserm.fr/inserm-00868749/file/1471-2431-13-130.pdf"> <date notBefore="2013-10-01"></date>
</ref>
<ref type="annex" subtype="other" n="0" target="http://www.hal.inserm.fr/inserm-00868749/file/1471-2431-13-130-S1.XLSX"> <date notBefore="2013-10-01"></date>
</ref>
<ref type="annex" subtype="other" n="0" target="http://www.hal.inserm.fr/inserm-00868749/file/1471-2431-13-130.xml"> <date notBefore="2013-10-01"></date>
</ref>
</edition>
<respStmt> <resp>contributor</resp>
<name key="151596"> <persName> <forename>Ed.</forename>
<surname>BMC</surname>
</persName>
<email type="md5">440c6e58a5bd861e373d54bc5e68a1a4</email>
<email type="domain">biomedcentral.com</email>
</name>
</respStmt>
</editionStmt>
<publicationStmt> <distributor>CCSD</distributor>
<idno type="halId">inserm-00868749</idno>
<idno type="halUri">http://www.hal.inserm.fr/inserm-00868749</idno>
<idno type="halBibtex">farmer:inserm-00868749</idno>
<idno type="halRefHtml">BMC Pediatrics, BioMed Central, 2013, 13 (1), pp.130. <10.1186/1471-2431-13-130></idno>
<idno type="halRef">BMC Pediatrics, BioMed Central, 2013, 13 (1), pp.130. <10.1186/1471-2431-13-130></idno>
</publicationStmt>
<seriesStmt> <idno type="stamp" n="INSERM">INSERM - Institut national de la santé et de la recherche médicale</idno>
<idno type="stamp" n="CNRS">CNRS - Centre national de la recherche scientifique</idno>
<idno type="stamp" n="UNICE">Université Nice Sophia Antipolis</idno>
</seriesStmt>
<notesStmt> <note type="audience" n="2">International</note>
<note type="popular" n="0">No</note>
<note type="peer" n="1">Yes</note>
</notesStmt>
<sourceDesc> <biblStruct> <analytic> <title xml:lang="en">EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome.</title>
<author role="aut"> <persName> <forename type="first">Amy</forename>
<surname>Farmer</surname>
</persName>
<email type="md5">0a66aeff319aee5fba2e0dcde88f5b3e</email>
<email type="domain">bch.nhs.uk</email>
<idno type="halauthorid">894895</idno>
<affiliation ref="#struct-150160"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Ségolène</forename>
<surname>Aymé</surname>
</persName>
<email type="md5">49be183b633367aa220258019499e51e</email>
<email type="domain">inserm.fr</email>
<idno type="halauthorid">611886</idno>
<affiliation ref="#struct-183605"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Miguel</forename>
<forename type="middle">Lopez</forename>
<surname>De Heredia</surname>
</persName>
<email type="md5">52d76dcca16e7dacde401d0b8cf440eb</email>
<email type="domain">idibell.cat</email>
<idno type="halauthorid">894896</idno>
<affiliation ref="#struct-232508"></affiliation>
<affiliation ref="#struct-232509"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Pietro</forename>
<surname>Maffei</surname>
</persName>
<email type="md5">96baa21c9503475d0881873ddaf48688</email>
<email type="domain">libero.it</email>
<idno type="halauthorid">894897</idno>
<affiliation ref="#struct-232510"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Susan</forename>
<surname>McCafferty</surname>
</persName>
<email type="md5">0aaa863d7589777387b69c51b0c1f304</email>
<email type="domain">glasgow.ac.uk</email>
<idno type="halauthorid">894898</idno>
<affiliation ref="#struct-232511"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Wojciech</forename>
<surname>Młynarski</surname>
</persName>
<email type="md5">2feee3ceadcc96a6ad9e18e5fd8ce722</email>
<email type="domain">joslin.harvard.edu</email>
<idno type="halauthorid">894899</idno>
<affiliation ref="#struct-232512"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Virginia</forename>
<surname>Nunes</surname>
</persName>
<email type="md5">4f0fcfad721d1cfff09405d2ba14e917</email>
<email type="domain">idibell.cat</email>
<idno type="halauthorid">894900</idno>
<affiliation ref="#struct-232508"></affiliation>
<affiliation ref="#struct-232509"></affiliation>
<affiliation ref="#struct-232515"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Kay</forename>
<surname>Parkinson</surname>
</persName>
<email type="md5">361ddfab795b2d580014db131f13b883</email>
<email type="domain">alstrom.org.uk</email>
<idno type="halauthorid">894901</idno>
<affiliation ref="#struct-232516"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Véronique</forename>
<surname>Paquis-Flucklinger</surname>
</persName>
<email type="md5">7aa1ca2c9d0efc10808bcc97e1f75624</email>
<email type="domain">unice.fr</email>
<idno type="halauthorid">894902</idno>
<affiliation ref="#struct-182186"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Julia</forename>
<surname>Rohayem</surname>
</persName>
<email type="md5">f223882abbfdb510f4008fbf51abbf29</email>
<email type="domain">ukmuenster.de</email>
<idno type="halauthorid">894903</idno>
<affiliation ref="#struct-232518"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Richard</forename>
<surname>Sinnott</surname>
</persName>
<email type="md5">b0bdbff2ce0ba084a67a4bb9e65a06c8</email>
<email type="domain">unimelb.edu.au</email>
<idno type="halauthorid">894904</idno>
<affiliation ref="#struct-188163"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Vallo</forename>
<surname>Tillmann</surname>
</persName>
<email type="md5">25f254b4e821458f8f9d158f8d1c1524</email>
<email type="domain">kliinikum.ee</email>
<idno type="halauthorid">894905</idno>
<affiliation ref="#struct-232520"></affiliation>
</author>
<author role="aut"> <persName> <forename type="first">Lisbeth</forename>
<surname>Tranebjærg</surname>
</persName>
<email type="md5">b90a21e5eca619d85c123cbca8b66208</email>
<email type="domain">sund.ku.dk</email>
<idno type="halauthorid">894906</idno>
<affiliation ref="#struct-232521"></affiliation>
<affiliation ref="#struct-232522"></affiliation>
</author>
<author role="crp"> <persName> <forename type="first">Timothy</forename>
<surname>Barrett</surname>
</persName>
<email type="md5">525fcd545f7922a3f55d72d5524da6c5</email>
<email type="domain">bham.ac.uk</email>
<idno type="halauthorid">786291</idno>
<affiliation ref="#struct-232523"></affiliation>
</author>
</analytic>
<monogr> <idno type="halJournalId" status="VALID">357</idno>
<idno type="issn">1471-2431</idno>
<title level="j">BMC Pediatrics</title>
<imprint> <publisher>BioMed Central</publisher>
<biblScope unit="volume">13</biblScope>
<biblScope unit="issue">1</biblScope>
<biblScope unit="pp">130</biblScope>
<date type="datePub">2013-08-27</date>
<date type="dateEpub">2013-08-27</date>
</imprint>
</monogr>
<idno type="doi">10.1186/1471-2431-13-130</idno>
<idno type="pubmed">23981649</idno>
</biblStruct>
</sourceDesc>
<profileDesc> <langUsage> <language ident="en">English</language>
</langUsage>
<textClass> <keywords scheme="author"> <term xml:lang="af">Wolfram</term>
<term xml:lang="af">Alström</term>
<term xml:lang="af">Bardet-Biedl</term>
<term xml:lang="af">Diabetes</term>
<term xml:lang="af">Patient registries</term>
<term xml:lang="af">Rare diseases</term>
</keywords>
<classCode scheme="halDomain" n="sdv.mhep.ped">Life Sciences [q-bio]/Human health and pathology/Pediatrics</classCode>
<classCode scheme="halTypology" n="ART">Journal articles</classCode>
</textClass>
<abstract xml:lang="en">BACKGROUND: Wolfram, Alstrom and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion. There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. We aim to establish a Europe-wide registry for these diseases to inform patient care and research. METHODS: EURO-WABB is an international multicenter large-scale observational study capturing longitudinal clinical and outcome data for patients with WABB diagnoses. Three hundred participants will be recruited over 3 years from different sites throughout Europe. Comprehensive clinical, genetic and patient experience data will be collated into an anonymized disease registry. Data collection will be web-based, and forms part of the project's Virtual Research and Information Environment (VRIE). Participants who haven't undergone genetic diagnostic testing for their condition will be able to do so via the project. CONCLUSIONS: The registry data will be used to increase the understanding of the natural history of WABB diseases, to serve as an evidence base for clinical management, and to aid the identification of opportunities for intervention to stop or delay the progress of the disease. The detailed clinical characterisation will allow inclusion of patients into studies of novel treatment interventions, including targeted interventions in small scale open label studies; and enrolment into multi-national clinical trials. The registry will also support wider access to genetic testing, and encourage international collaborations for patient benefit.</abstract>
</profileDesc>
</hal>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonFranceV1/Data/Hal/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000336 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Hal/Curation/biblio.hfd -nk 000336 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= ParkinsonFranceV1 |flux= Hal |étape= Curation |type= RBID |clé= Hal:inserm-00868749 |texte= EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet-Biedl syndrome. }}
![]() | This area was generated with Dilib version V0.6.29. | ![]() |