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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. Identifier: NCT03959605
Recruitment Status : Not yet recruiting
First Posted : May 22, 2019
Last Update Posted : May 24, 2019
Information provided by (Responsible Party):
Fondation Ophtalmologique Adolphe de Rothschild

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
Albinism, Ocular Genetic: blood sample for genetic test Diagnostic Test: Ophtalmological examination

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Study Type : Observational
Estimated Enrollment : 72 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children
Estimated Study Start Date : September 2019
Estimated Primary Completion Date : September 2020
Estimated Study Completion Date : September 2020

Intervention Details:
  • 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

Primary Outcome Measures :
  1. Number of genetics variants [ Time Frame: 1 month ]
    among the genes involved in albinism, identification of those presents in parents of children with albinism

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
parents without symptom of albinism (except fovea plana) of children with albinism

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

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Responsible Party: Fondation Ophtalmologique Adolphe de Rothschild Identifier: NCT03959605     History of Changes
Other Study ID Numbers: MMT_2019_2
First Posted: May 22, 2019    Key Record Dates
Last Update Posted: May 24, 2019
Last Verified: May 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
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Albinism, Ocular
Eye Diseases, Hereditary
Eye Diseases
Genetic Diseases, Inborn
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Skin Diseases, Genetic
Pigmentation Disorders
Skin Diseases
Metabolic Diseases