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

摘要

Alstrom syndrome (infancy onset obesity, cardiomyopathy,retinal dystrophy and renal complications) and BardetBiedl syndrome (polydactyly, infancy onset obesity, retinaldystrophy and learning difficulties) are uncommon (lessthan 1:100,000), linked by obesity, vision loss and deafness,frequently develop diabetes mellitus by adulthood, andshare ciliopathy as the underlying pathology. Delayed diagnosisis common; treatable complications are often missed;and access to molecular genetic testing is unequal betweenEuropean citizens. There are as yet no orphan drug treatmentsavailable, and no access to well characterizedcohorts of patients to undertake research. We aimed toestablish a European Registry to address these issues. Weagreed a common dataset of clinical, investigation andmolecular diagnostic data to distinguish between theseand other rare syndromes. We wrote an ethics submissiontemplate for national approvals, to include consent to linknational and international registries. We designed a webbased registry with built in security for data confidentiality,anonymised data collection, and facility for patients to selfregister. Finally we designed a website for dissemination ofinformation to health professionals and families. The coredataset includes 44 data fields which define and separatethe syndromes; the extended dataset comprises 370 fieldsof detailed phenotyping information. We currently haveethics approval in 6 EU states, and the first 40 patientsconsented, mainly from Italy and UK. This EU Registrywill aid the development of national management guidelinesand education material for health professionals;improve patient services, raise awareness, and allowrecruitment into multi-national clinical trials.