ALAFOR: Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children

Sponsor
Fondation Ophtalmologique Adolphe de Rothschild (Other)
Overall Status
Completed
CT.gov ID
NCT03959605
Collaborator
(none)
48
1
32.8
1.5

Study Details

Study Description

Brief Summary

Fovea plana could be the phenoyipic translation of a genetic anomaly in one of the genes identified in albinisme

Condition or Disease Intervention/Treatment Phase
  • Genetic: blood sample for genetic test
  • Diagnostic Test: Ophtalmological examination

Study Design

Study Type:
Observational
Actual Enrollment :
48 participants
Observational Model:
Case-Control
Time Perspective:
Prospective
Official Title:
Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children
Actual Study Start Date :
Jan 6, 2019
Actual Primary Completion Date :
Feb 2, 2021
Actual Study Completion Date :
Oct 1, 2021

Outcome Measures

Primary Outcome Measures

  1. Number of genetics variants [1 month]

    among the genes involved in albinism, identification of those presents in parents of children with albinism

Eligibility Criteria

Criteria

Ages Eligible for Study:
18 Years and Older
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
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

Contacts and Locations

Locations

Site City State Country Postal Code
1 Fondation A de Rothschild Paris France 75019

Sponsors and Collaborators

  • Fondation Ophtalmologique Adolphe de Rothschild

Investigators

  • Principal Investigator: Martine MAUGET FAYSSE, Fondation A. de Rothschild

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.
Responsible Party:
Fondation Ophtalmologique Adolphe de Rothschild
ClinicalTrials.gov Identifier:
NCT03959605
Other Study ID Numbers:
  • MMT_2019_2
First Posted:
May 22, 2019
Last Update Posted:
Oct 21, 2021
Last Verified:
Oct 1, 2021
Individual Participant Data (IPD) Sharing Statement:
Undecided
Plan to Share IPD:
Undecided
Studies a U.S. FDA-regulated Drug Product:
No
Studies a U.S. FDA-regulated Device Product:
No
Additional relevant MeSH terms:

Study Results

No Results Posted as of Oct 21, 2021