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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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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| clinical, biological, and radiological | Behavioral |
| Measure | Description | Time Frame |
|---|---|---|
| Outcome evaluated end 2005 and 2006 | ||
| Clinical results (natural history, phenotype-genotype correlations, genetic epidemiology, new genes identification |
| Measure | Description | Time Frame |
|---|---|---|
| This study may lead to further clinical investigations according to the results (new protocol to be established) and to further molecular investigations |
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Inclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| 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 |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hélène Dollfus | Strasbourg | France |
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| ID | Term |
|---|---|
| D020788 | Bardet-Biedl Syndrome |
| D035583 | Rare Diseases |
| D012174 | Retinitis Pigmentosa |
| D009765 | Obesity |
| ID | Term |
|---|---|
| D007027 | Hypothalamic Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
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| ID | Term |
|---|---|
| D001688 | Biological Products |
| ID | Term |
|---|---|
| D045424 | Complex Mixtures |
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| Principal Investigator |
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D000072661 | Ciliopathies |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D058499 | Retinal Dystrophies |
| D012162 | Retinal Degeneration |
| D012164 | Retinal Diseases |
| D050177 | Overweight |
| D044343 | Overnutrition |
| D009748 | Nutrition Disorders |
| D009750 | Nutritional and Metabolic Diseases |
| D001835 | Body Weight |
| D012816 | Signs and Symptoms |