New Strategies of Genetic Study of Patients With Oculocutaneous Albinism

Completed

• Conditions: Mutation; Oculocutaneous Albinism

• Registration Number: NCT04068961
• Lead Sponsor: University Hospital, Bordeaux

Brief 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.

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Study Timeline

• Study Start: 2010-09-15
• Primary Completion: 2010-10-31
• Study Completion: 2010-10-31
• Status Verified: 2019-08
• Study First Submitted: 2019-08-22
• Study First Submitted QC: 2019-08-22
• Last Update Submitted: 2019-08-26
• Study First Posted: 2019-08-28
• Last Update Posted: 2019-08-28

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 64

Inclusion Criteria

-Oculocutaneous albinism (diagnosis validated by a clinician at the initial genetic consultation and did not show mutations of the TYR, OCA2, TYRP1, SLC45A2 genes)

Exclusion Criteria

None

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Presence of a genetic anomaly	At the screening	Analysis by CGH (Comparative Genomic Hybridization) array : The Log2 values of the patient / reference fluorescence intensity ratios (Log2R) are -1 in the case of a heterozygous deletion, 0.5 in the case of heterozygous duplication and 0 in the absence of rearrangement.
Identification of a genetic mutation	At the screening	By sequencing candidate genes : homozygotic cartography and candidate gene sequencing