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New Strategies of Genetic Study of Patients With Oculocutaneous Albinism (GENALB)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04068961
Recruitment Status : Completed
First Posted : August 28, 2019
Last Update Posted : August 28, 2019
Sponsor:
Information provided by (Responsible Party):
University Hospital, Bordeaux

Tracking Information
First Submitted Date August 22, 2019
First Posted Date August 28, 2019
Last Update Posted Date August 28, 2019
Actual Study Start Date September 15, 2010
Actual Primary Completion Date October 31, 2010   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: August 22, 2019)
  • 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
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title New Strategies of Genetic Study of Patients With Oculocutaneous Albinism
Official Title New Strategies of Genetic Study of Patients With Oculocutaneous Albinism
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.
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.

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Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Retrospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
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
Sampling Method Non-Probability Sample
Study Population Patients having been examined during a genetic consultation, with Oculocutaneous Albinism
Condition
  • Oculocutaneous Albinism
  • Mutation
Intervention Other: Genetic analyzes
Analysis by CGH array, homozygotic cartography and candidate gene sequencing
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: August 22, 2019)
64
Original Actual Enrollment Same as current
Actual Study Completion Date October 31, 2010
Actual Primary Completion Date October 31, 2010   (Final data collection date for primary outcome measure)
Eligibility Criteria

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

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Not Provided
Removed Location Countries  
 
Administrative Information
NCT Number NCT04068961
Other Study ID Numbers CHUBX 2010/31
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party University Hospital, Bordeaux
Study Sponsor University Hospital, Bordeaux
Collaborators Not Provided
Investigators
Principal Investigator: Fanny MORICE-PICARD, Dr University Hospital, Bordeaux
PRS Account University Hospital, Bordeaux
Verification Date August 2019