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
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Condition or disease | Intervention/treatment |
---|---|
Albinism, Ocular | Genetic: blood sample for genetic test Diagnostic Test: Ophtalmological examination |
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 |

- 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
- 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 |
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

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
Contact: Martine MAUGET FAYSSE | 0148036437 ext +33 | mmfaysse@for.paris | |
Contact: Vivien VASSEUR | vvasseur@for.paris |
France | |
Fondation A de Rothschild | Recruiting |
Paris, France, 75019 | |
Contact: Martine MAUGET FAYSSE mmfaysse@for.paris |
Principal Investigator: | Martine MAUGET FAYSSE | Fondation A. de Rothschild |
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 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
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 |