Status:

COMPLETED

New Strategies of Genetic Study of Patients With Oculocutaneous Albinism

Lead Sponsor:

University Hospital, Bordeaux

Conditions:

Oculocutaneous Albinism

Mutation

Eligibility:

All Genders

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...

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...

Eligibility Criteria

Inclusion

  • 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

  • None

Key Trial Info

Start Date :

September 15 2010

Trial Type :

OBSERVATIONAL

Allocation :

ACTUAL

End Date :

October 31 2010

Estimated Enrollment :

64 Patients enrolled

Trial Details

Trial ID

NCT04068961

Start Date

September 15 2010

End Date

October 31 2010

Last Update

August 28 2019

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