Trials / Completed
CompletedNCT04068961
New Strategies of Genetic Study of Patients With Oculocutaneous Albinism
- Status
- Completed
- Phase
- —
- Study type
- Observational
- Enrollment
- 64 (actual)
- Sponsor
- University Hospital, Bordeaux · Academic / Other
- Sex
- All
- Age
- —
- Healthy volunteers
- Not accepted
Summary
The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients.
Detailed description
The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients. .
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| OTHER | Genetic analyzes | Analysis by CGH array, homozygotic cartography and candidate gene sequencing |
Timeline
- Start date
- 2010-09-15
- Primary completion
- 2010-10-31
- Completion
- 2010-10-31
- First posted
- 2019-08-28
- Last updated
- 2019-08-28
Source: ClinicalTrials.gov record NCT04068961. Inclusion in this directory is not an endorsement.