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

NCT00213811 | Completed

• 1 other identifier: 2899
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Bardet-Biedl Syndrome; Orphan Diseases

Keywords

Bardet-Biedl syndrome, retinitis pigmentosa, obesity, genes

Outcome Measures

Primary Outcomes (2)

• Outcome evaluated end 2005 and 2006

• 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

Interventions

clinical, biological, and radiological BEHAVIORAL

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (1)

Hélène Dollfus

Strasbourg, France

Location

MeSH Terms

Conditions

Bardet-Biedl Syndrome; Rare Diseases; Retinitis Pigmentosa; Obesity

Interventions

Biological Products

Condition Hierarchy (Ancestors)

Hypothalamic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Eye Diseases, Hereditary; Eye Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Retinal Dystrophies; Retinal Degeneration; Retinal Diseases; Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases; Body Weight; Signs and Symptoms

Intervention Hierarchy (Ancestors)

Complex Mixtures

Study Officials

• Hélène Dollfus, MD

  Fédération Génétique

  PRINCIPAL INVESTIGATOR

• J-Louis Mandel, MD

  IGBMC

  PRINCIPAL INVESTIGATOR

• Pascal Bousquet, MD

  CIC Strasbourg

  PRINCIPAL INVESTIGATOR

• Christian Brandt, MD

  CIC Strasbourg

  PRINCIPAL INVESTIGATOR

• Catherine Arnold, MD

  CIC Strasbourg

  PRINCIPAL INVESTIGATOR

• Alain Verloes, MD

  Unité de Génétique Robert Debré

  PRINCIPAL INVESTIGATOR

• Régis Hanfard, MD

  CIC Robet Debré

  PRINCIPAL INVESTIGATOR

• Didier Lacombe, MD

  Service de Génétique Médicale/Bordeaux

  PRINCIPAL INVESTIGATOR

• Virginie Bernard, MD

  CIC Bordeaux

  PRINCIPAL INVESTIGATOR

• Sylvie Manouvrier, MD

  Service de Génétique Médicale Lille

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: September 13, 2005
• First Posted: September 21, 2005
• Study Start: June 1, 2003
• Last Updated: August 8, 2008

Record last verified: 2008-08

Locations

FR (1)