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OpenTrials
Completed

NCT Number: NCT04068961

New Strategies of Genetic Study of Patients With Oculocutaneous Albinism

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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Key information

Conditions

Oculocutaneous Albinism Albinism Albinism, Oculocutaneous Amino Acid Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Hypopigmentation Metabolic Diseases Metabolism, Inborn Errors Mutation Nutritional and Metabolic Diseases Pigmentation Disorders Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Sex eligibility

All sexes

Study type

Observational

About this study

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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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Genetic analyzes

Other

Analysis by CGH array, homozygotic cartography and candidate gene sequencing

Primary outcomes

  1. Presence of a genetic anomaly

    Time frame: 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.

  2. Identification of a genetic mutation

    Time frame: At the screening

    By sequencing candidate genes : homozygotic cartography and candidate gene sequencing

Sponsors and collaborators

Lead sponsor

University Hospital, Bordeaux

Other

Registry information

Acronym: GENALB

Important dates

Study start
2010
Primary completion
2010
Study completion
2010
First posted
Aug 28, 2019
Registry last updated
Jun 18, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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