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Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children (ALAFOR)

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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03959605
Recruitment Status : Not yet recruiting
First Posted : May 22, 2019
Last Update Posted : December 11, 2019
Sponsor:
Information provided by (Responsible Party):
Fondation Ophtalmologique Adolphe de Rothschild

Tracking Information
First Submitted Date May 18, 2019
First Posted Date May 22, 2019
Last Update Posted Date December 11, 2019
Estimated Study Start Date February 2020
Estimated Primary Completion Date February 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: May 22, 2019)
Number of genetics variants [ Time Frame: 1 month ]
among the genes involved in albinism, identification of those presents in parents of children with albinism
Original Primary Outcome Measures
 (submitted: May 21, 2019)
descrption if the of genetics variants [ Time Frame: 1 month ]
among the genes involved in albinism, identification of those presents in parents of children with albinism
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 Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children
Official Title Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children
Brief Summary Fovea plana could be the phenoyipic translation of a genetic anomaly in one of the genes identified in albinisme
Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population parents without symptom of albinism (except fovea plana) of children with albinism
Condition Albinism, Ocular
Intervention
  • Genetic: blood sample for genetic test
    detection of pathogenic variants among the 19 genes known to be involved in albinism
  • Diagnostic Test: Ophtalmological examination
    measurement of visual acuity, OCT and OCTA
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 Not yet recruiting
Estimated Enrollment
 (submitted: May 21, 2019)
72
Original Estimated Enrollment Same as current
Estimated Study Completion Date February 2021
Estimated Primary Completion Date February 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • children with albinism
  • father and mother of children with albinism

Exclusion Criteria:

  • sign of albinism except fovea plana in father or mother of children with albinism
  • ophthalmological abnormalities making access to the fundus with OCT impossible
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Martine MAUGET FAYSSE 0148036437 ext +33 mmfaysse@for.paris
Contact: Vivien VASSEUR vvasseur@for.paris
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT03959605
Other Study ID Numbers MMT_2019_2
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party Fondation Ophtalmologique Adolphe de Rothschild
Study Sponsor Fondation Ophtalmologique Adolphe de Rothschild
Collaborators Not Provided
Investigators
Principal Investigator: Martine MAUGET FAYSSE Fondation A. de Rothschild
PRS Account Fondation Ophtalmologique Adolphe de Rothschild
Verification Date December 2019