New Strategies of Genetic Study of Patients With Oculocutaneous Albinism (GENALB)
June 16, 2026 updated by: University Hospital, Bordeaux
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 Overview
Status
Completed
Conditions
Intervention / Treatment
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.
.
Study Type
Observational
Enrollment (Actual)
64
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
No
Sampling Method
Non-Probability Sample
Study Population
Patients having been examined during a genetic consultation, with Oculocutaneous Albinism
Description
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 Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Retrospective
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
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.
|
At the screening
|
|
Identification of a genetic mutation
Time Frame: At the screening
|
By sequencing candidate genes : homozygotic cartography and candidate gene sequencing
|
At the screening
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Investigators
- Principal Investigator: Fanny MORICE-PICARD, Dr, University Hospital, Bordeaux
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
September 15, 2010
Primary Completion (Actual)
October 31, 2010
Study Completion (Actual)
October 31, 2010
Study Registration Dates
First Submitted
August 22, 2019
First Submitted That Met QC Criteria
August 22, 2019
First Posted (Actual)
August 28, 2019
Study Record Updates
Last Update Posted (Actual)
June 18, 2026
Last Update Submitted That Met QC Criteria
June 16, 2026
Last Verified
August 1, 2019
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Metabolism, Inborn Errors
- Genetic Diseases, Inborn
- Metabolic Diseases
- Eye Diseases
- Skin Diseases
- Eye Diseases, Hereditary
- Hypopigmentation
- Pigmentation Disorders
- Skin Diseases, Genetic
- Amino Acid Metabolism, Inborn Errors
- Albinism
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Nutritional and Metabolic Diseases
- Skin and Connective Tissue Diseases
- Albinism, Oculocutaneous
Other Study ID Numbers
- CHUBX 2010/31
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
NO
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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