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Completed

NCT Number: NCT00213811

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

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.

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Key information

Conditions

Bardet-Biedl Syndrome Abnormalities, Multiple Body Weight Brain Diseases Central Nervous System Diseases Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Hypothalamic Diseases Nervous System Diseases Nutrition Disorders Nutritional and Metabolic Diseases Obesity Orphan Diseases Overnutrition Overweight Pathologic Processes Pathological Conditions, Signs and Symptoms Rare Diseases Retinal Degeneration Retinal Diseases Retinal Dystrophies Retinitis Pigmentosa Signs and Symptoms

Age range

16 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hélène Dollfus

Strasbourg, France

Who can participate

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

clinical, biological, and radiological

Behavioral

Primary outcomes

  1. Outcome evaluated end 2005 and 2006

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

Secondary outcomes

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

Sponsors and collaborators

Lead sponsor

University Hospital, Strasbourg, France

Other

Registry information

Official study title

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

Important dates

Study start
2003
First posted
Sep 21, 2005
Registry last updated
Aug 8, 2008

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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