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

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ClinicalTrials.gov Identifier: NCT03959605
Recruitment Status : Not yet recruiting
First Posted : May 22, 2019
Last Update Posted : May 24, 2019
Sponsor:
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



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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
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

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Responsible Party: Fondation Ophtalmologique Adolphe de Rothschild
ClinicalTrials.gov 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
Albinism, Ocular
Eye Diseases, Hereditary
Eye Diseases
Genetic Diseases, Inborn
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Skin Diseases, Genetic
Hypopigmentation
Pigmentation Disorders
Skin Diseases
Metabolic Diseases