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

University Hospital, Strasbourg, France40 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Bardet-Biedl Syndrome Orphan Diseases

Interventions

clinical, biological, and radiologicalBEHAVIORAL

Eligibility

Sex: ALLMin age: 16 Years

Medical Language ↔ Plain English

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

Locations (1)

Hélène Dollfus

Strasbourg, France

Outcomes

Primary Outcomes

Outcome evaluated end 2005 and 2006

Clinical results (natural history, phenotype-genotype correlations, genetic epidemiology, new genes identification

Secondary Outcomes

This study may lead to further clinical investigations according to the results (new protocol to be established) and to further molecular investigations

Data from ClinicalTrials.gov

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