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http://www.euro-wabb.org: an EU Register for Alstrom, Bardet Biedl andother rare syndromes

  • T Barrett
  • A Farmer
  • S Aymé
  • P Maffei
  • S McCafferty
  • W Mlynarski
  • V Nunes
  • V Paquis
  • K Parkinson
  • J Rohayem
  • R Sinnott
  • V Tillmann
  • L Tranebjaerg
Open Access
Poster presentation
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Keywords

Orphan Drug Polydactyly Retinal Dystrophy Bardet Biedl Syndrome Rare Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Alstrom syndrome (infancy onset obesity, cardiomyopathy, retinal dystrophy and renalcomplications) and Bardet Biedl syndrome (polydactyly, infancy onset obesity, retinaldystrophy and learning difficulties) are uncommon (less than 1:100,000), linked byobesity, vision loss and deafness, frequently develop diabetes mellitus by adulthood,and share ciliopathy as the underlying pathology. Delayed diagnosis is common; treatablecomplications are often missed; and access to molecular genetic testing is unequalbetween European citizens. There are as yet no orphan drug treatments available, and noaccess to well characterized cohorts of patients to undertake research. We aimed toestablish a European Registry to address these issues. We agreed a common dataset ofclinical, investigation and molecular diagnostic data to distinguish between these andother rare syndromes. We wrote an ethics submission template for national approvals, toinclude consent to link national and international registries. We designed a web basedregistry with built in security for data confidentiality, anonymised data collection,and facility for patients to self register. Finally we designed a website fordissemination of information to health professionals and families. The core datasetincludes 44 data fields which define and separate the syndromes; the extended datasetcomprises 370 fields of detailed phenotyping information. We currently have ethicsapproval in 6 EU states, and the first 40 patients consented, mainly from Italy and UK.This EU Registry will aid the development of national management guidelines andeducation material for health professionals; improve patient services, raise awareness,and allow recruitment into multi-national clinical trials.

http://www.euro-wabb.org

Copyright information

© Barrett et al; licensee BioMed Central Ltd. 2012

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative CommonsAttribution License (http://creativecommons.org/licenses/by/2.0), whichpermits unrestricted use, distribution, and reproduction in any medium, provided theoriginal work is properly cited.

Authors and Affiliations

  • T Barrett
    • 1
  • A Farmer
    • 2
  • S Aymé
    • 3
  • P Maffei
    • 4
  • S McCafferty
    • 5
  • W Mlynarski
    • 6
  • V Nunes
    • 7
  • V Paquis
    • 8
  • K Parkinson
    • 9
  • J Rohayem
    • 10
  • R Sinnott
    • 11
  • V Tillmann
    • 12
  • L Tranebjaerg
    • 13
  1. 1.University of BirminghamUK
  2. 2.Birmingham Children's HospitalUK
  3. 3.INSERMFrance
  4. 4.University of PadovaItaly
  5. 5.University of GlasgowUK
  6. 6.University of LodzPoland
  7. 7.IDIBELLSpain
  8. 8.Centre Nationale de la Recherche ScientifiqueFrance
  9. 9.Alstrom SyndromeUK
  10. 10.University of DresdenGermany
  11. 11.University of MelbourneAustralia
  12. 12.University of TartuEstonia
  13. 13.University of CopenhagenDenmark

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