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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 : Recruiting
First Posted : May 22, 2019
Last Update Posted : October 19, 2020
Sponsor:
Information provided by (Responsible Party):
Fondation Ophtalmologique Adolphe de Rothschild

Study Description
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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

Study Design
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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
Actual Study Start Date : January 6, 2019
Estimated Primary Completion Date : January 2022
Estimated Study Completion Date : January 2022

Resource links provided by the National Library of Medicine


Groups and Cohorts
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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

Outcome Measures
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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


Eligibility Criteria
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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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03959605


Contacts
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Contact: Martine MAUGET FAYSSE 0148036437 ext +33 mmfaysse@for.paris
Contact: Vivien VASSEUR vvasseur@for.paris

Locations
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France
Fondation A de Rothschild Recruiting
Paris, France, 75019
Contact: Martine MAUGET FAYSSE       mmfaysse@for.paris   
Sponsors and Collaborators
Fondation Ophtalmologique Adolphe de Rothschild
Investigators
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Principal Investigator: Martine MAUGET FAYSSE Fondation A. de Rothschild
More Information
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Responsible Party: Fondation Ophtalmologique Adolphe de Rothschild
ClinicalTrials.gov Identifier: NCT03959605    
Other Study ID Numbers: MMT_2019_2
First Posted: May 22, 2019    Key Record Dates
Last Update Posted: October 19, 2020
Last Verified: October 2020
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