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New Strategies of Genetic Study of Patients With Oculocutaneous Albinism

NCT04068961 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 64

Last updated 2019-08-28

No results posted yet for this study

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.

Conditions

  • Oculocutaneous Albinism
  • Mutation

Interventions

OTHER

Genetic analyzes

Analysis by CGH array, homozygotic cartography and candidate gene sequencing

Sponsors & Collaborators

  • University Hospital, Bordeaux

    lead OTHER

Principal Investigators

  • Fanny MORICE-PICARD, Dr · University Hospital, Bordeaux

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2010-09-15
Primary Completion
2010-10-31
Completion
2010-10-31

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04068961 on ClinicalTrials.gov