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

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

Study Overview

Study Type

Observational

Enrollment (Actual)

48

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

      • Paris, France, 75019
        • Fondation A De Rothschild

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

parents without symptom of albinism (except fovea plana) of children with albinism

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of genetics variants
Time Frame: 1 month
among the genes involved in albinism, identification of those presents in parents of children with albinism
1 month

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 6, 2019

Primary Completion (Actual)

February 2, 2021

Study Completion (Actual)

October 1, 2021

Study Registration Dates

First Submitted

May 18, 2019

First Submitted That Met QC Criteria

May 21, 2019

First Posted (Actual)

May 22, 2019

Study Record Updates

Last Update Posted (Actual)

October 21, 2021

Last Update Submitted That Met QC Criteria

October 20, 2021

Last Verified

October 1, 2021

More Information

Terms related to this study

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Undecided

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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