Skip to main content an EU Register for Alstrom, Bardet Biedl andother rare syndromes

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.

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Barrett, T., Farmer, A., Aymé, S. et al. an EU Register for Alstrom, Bardet Biedl andother rare syndromes. Cilia 1 (Suppl 1), P2 (2012).

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