New Strategies of Genetic Study of Patients With Oculocutaneous Albinism (GENALB)
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|ClinicalTrials.gov Identifier: NCT04068961|
Recruitment Status : Completed
First Posted : August 28, 2019
Last Update Posted : August 28, 2019
|Condition or disease||Intervention/treatment|
|Oculocutaneous Albinism Mutation||Other: Genetic analyzes|
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.
|Study Type :||Observational|
|Actual Enrollment :||64 participants|
|Official Title:||New Strategies of Genetic Study of Patients With Oculocutaneous Albinism|
|Actual Study Start Date :||September 15, 2010|
|Actual Primary Completion Date :||October 31, 2010|
|Actual Study Completion Date :||October 31, 2010|
- Other: Genetic analyzes
Analysis by CGH array, homozygotic cartography and candidate gene sequencing
- 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.
- Identification of a genetic mutation [ Time Frame: At the screening ]By sequencing candidate genes : homozygotic cartography and candidate gene sequencing
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04068961
|Principal Investigator:||Fanny MORICE-PICARD, Dr||University Hospital, Bordeaux|