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| ID | Type | Description | Link |
|---|---|---|---|
| 2008-A01238-47 |
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| Name | Class |
|---|---|
| Ministry of Health, France | OTHER_GOV |
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Identify new genes responsible for autosomal dominant retinitis pigmentosa (ADRP), one of the most common causes of hereditary diseases of the retina, and thus better understand the mechanisms involved of the disease."
Two hundred and fifty samples from unrelated patients, from which 150 were provided by the national reference center of rare disease in Montpellier and 100 recruited in the 9 participating centers over a period of two years."To identify the missing genes, we proceed in two steps. A first step in selecting families negative for the 8 major genes genes, by systematic sequencing of exons most frequently involved. A second step in finding new loci / genes by locus exclusion using microsatellite markers and SNP genotyping.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| patient | Other | Patient suffering of adRP that accept to participate at this study have a blood prelevement for genetic analysis (intervention) |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| genetic analysis | Genetic |
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| Measure | Description | Time Frame |
|---|---|---|
| identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP) | for 5 years |
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Inclusion Criteria:
Exclusion Criteria:
-
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| Name | Affiliation | Role |
|---|---|---|
| christian HAMEL, Pr Ph.D | Institut National de la Santé Et de la Recherche Médicale, France | Principal Investigator |
| José-Alain SAHEL, Pr | § Centre hospitalier national d'ophtalmologie des XV-XX, Paris,FRANCE | Study Chair |
| Jean Louis DUFIER, Pr | Hopital Necker enfants-malades,Paris,FRANCE | Study Chair |
| Hélène DOLLFUS, Pr | CHU de STRASBOURG, FRANCE | Study Chair |
| sylvie ODENT, Pr | CHU de RENNES Unité INSERM 598,Paris,FRANCE | Study Chair |
| Sabine DEFOORT- DHELEMMES, Ph.D | CHRU de LILLE,FRANCE | Study Chair |
| Michel WEBER, Pr | CHU de NANTES,FRANCE | Study Chair |
| Xavier ZANLONGH, Ph.D | CLINIQUE SOURDILLE, NANTES,France | Study Chair |
| Laurence LO OLIVIER-FAIVRE, PH | Centre génétique Médicale - Children Hospital of DIJON | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHRU Montpellier | Montpellier | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 20164459 | Result | Audo I, Manes G, Mohand-Said S, Friedrich A, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Zanlonghi X, Hamel CP, Sahel JA, Bhattacharya SS, Zeitz C. Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3687-700. doi: 10.1167/iovs.09-4766. Epub 2010 Feb 17. |
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| ID | Term |
|---|---|
| D035583 | Rare Diseases |
| ID | Term |
|---|---|
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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| ID | Term |
|---|---|
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |