Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults

University Hospital, Strasbourg, France

Status: Completed

Conditions: Bardet-Biedl Syndrome; Orphan Diseases

Treatments: Behavioral: clinical, biological, and radiological

Study type: Observational

Funder types: Other

Identifiers

NCT00213811

2899

Details and patient eligibility

About

This study is based on the study of the natural history of a rare disorder: the Bardet-Biedl syndrome (BBS) (which is associated with retinitis pigmentosa, polydactyly, cognitive impairment, obesity, and kidney failure). The clinical, biological, and radiological features of adult patients are studied. In parallel, a molecular study is performed on the known genes to date (8 genes from BBS1 to BBS8) and to identify new genes involved. The parts of the study are combined in a phenotype-genotype correlation study.

Sex: All

Ages: 16+ years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria:

• Adult (age over 16 years old)
• At least 3 of the five major criteria (retinitis pigmentosa, obesity, polydactyly, cognitive impairment, and kidney disorder) and/or BBS mutations identified