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COMPLETED
NCT04068961
New Strategies of Genetic Study of Patients With Oculocutaneous Albinism
Sponsor: University Hospital, Bordeaux
View on ClinicalTrials.gov
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.
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
64
Start Date
2010-09-15
Completion Date
2010-10-31
Last Updated
2026-06-18
Healthy Volunteers
No
Conditions
Interventions
OTHER
Genetic analyzes
Analysis by CGH array, homozygotic cartography and candidate gene sequencing