New Strategies of Genetic Study of Patients With Oculocutaneous Albinism

NCT04068961 | Completed

• 1 other identifier: CHUBX 2010/31
• Study Type: observational
• Target: 64
• Locations: 0 countries
• Sites: N/A

Brief 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

Keywords

CGH array chip; Homozygosity mapping

Outcome Measures

Primary Outcomes (2)

• 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

• Identification of a genetic mutation

  By sequencing candidate genes : homozygotic cartography and candidate gene sequencing

  At the screening

Interventions

Genetic analyzes OTHER

Analysis by CGH array, homozygotic cartography and candidate gene sequencing

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients having been examined during a genetic consultation, with Oculocutaneous Albinism

You may qualify if:

• Oculocutaneous albinism (diagnosis validated by a clinician at the initial genetic consultation and did not show mutations of the TYR, OCA2, TYRP1, SLC45A2 genes)

You may not qualify if:

• None

Sponsors & Collaborators

• University Hospital, Bordeaux: lead

Biospecimen

Retention: SAMPLES WITH DNA

Samples (2 blood tubes or 1 aliquot of DNA) are recorded in the DNA bank because were collected during the genetic consultation of these patients

MeSH Terms

Conditions

Albinism, Oculocutaneous

Condition Hierarchy (Ancestors)

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

Study Officials

• Fanny MORICE-PICARD, Dr

  University Hospital, Bordeaux

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 22, 2019
• First Posted: August 28, 2019
• Study Start: September 15, 2010
• Primary Completion: October 31, 2010
• Study Completion: October 31, 2010
• Last Updated: August 28, 2019

Record last verified: 2019-08

Data Sharing

• IPD Sharing: Will not share