New Strategies of Genetic Study of Patients With Oculocutaneous Albinism

Mutation Clinical Trial

— GENALB  

Official title:

New Strategies of Genetic Study of Patients With Oculocutaneous Albinism

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04068961
• Other study ID #: CHUBX 2010/31
• Status: Completed
• Start date: September 15, 2010
• Est. completion date: October 31, 2010

Study information

• Verified date: August 2019
• Source: University Hospital, Bordeaux
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

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Recruitment information / eligibility

• Status: Completed
• Enrollment: 64
• Est. completion date: October 31, 2010
• Est. primary completion date: October 31, 2010
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Albinism
• Albinism, Oculocutaneous
• Mutation
• Oculocutaneous Albinism

Intervention

Other:
• Genetic analyzes
Analysis by CGH array, homozygotic cartography and candidate gene sequencing

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Bordeaux

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Presence of a genetic anomaly	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
Primary	Identification of a genetic mutation	By sequencing candidate genes : homozygotic cartography and candidate gene sequencing	At the screening