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This article is part of the supplement: Proceedings of the First International Cilia in Development and Disease Scientific Conference (2012)

Open Access Open Badges Poster presentation an EU Register for Alstrom, Bardet Biedl and other rare syndromes

T Barrett1*, A Farmer2, S Aymé3, P Maffei4, S McCafferty5, W Mlynarski6, V Nunes7, V Paquis8, K Parkinson9, J Rohayem10, R Sinnott11, V Tillmann12 and L Tranebjaerg13

  • * Corresponding author: T Barrett

Author Affiliations

1 University of Birmingham, UK

2 Birmingham Children's Hospital, UK

3 INSERM, France

4 University of Padova, Italy

5 University of Glasgow, UK

6 University of Lodz, Poland

7 IDIBELL, Spain

8 Centre Nationale de la Recherche Scientifique, France

9 Alstrom Syndrome UK

10 University of Dresden, Germany

11 University of Melbourne, Australia

12 University of Tartu, Estonia

13 University of Copenhagen, Denmark

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Cilia 2012, 1(Suppl 1):P2  doi:10.1186/2046-2530-1-S1-P2

The electronic version of this article is the complete one and can be found online at:

Published:16 November 2012

© 2012 Barrett et al; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Poster presentation

Alstrom syndrome (infancy onset obesity, cardiomyopathy, retinal dystrophy and renal complications) and Bardet Biedl syndrome (polydactyly, infancy onset obesity, retinal dystrophy and learning difficulties) are uncommon (less than 1:100,000), linked by obesity, vision loss and deafness, frequently develop diabetes mellitus by adulthood, and share ciliopathy as the underlying pathology. Delayed diagnosis is common; treatable complications are often missed; and access to molecular genetic testing is unequal between European citizens. There are as yet no orphan drug treatments available, and no access to well characterized cohorts of patients to undertake research. We aimed to establish a European Registry to address these issues. We agreed a common dataset of clinical, investigation and molecular diagnostic data to distinguish between these and other rare syndromes. We wrote an ethics submission template for national approvals, to include consent to link national and international registries. We designed a web based registry with built in security for data confidentiality, anonymised data collection, and facility for patients to self register. Finally we designed a website for dissemination of information to health professionals and families. The core dataset includes 44 data fields which define and separate the syndromes; the extended dataset comprises 370 fields of detailed phenotyping information. We currently have ethics approval 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 and education material for health professionals; improve patient services, raise awareness, and allow recruitment into multi-national clinical trials. webcite