Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children

Albinism, Ocular Clinical Trial

— ALAFOR  

Official title:

Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03959605
• Other study ID #: MMT_2019_2
• Status: Completed
• Start date: January 6, 2019
• Est. completion date: October 1, 2021

Study information

• Verified date: October 2021
• Source: Fondation Ophtalmologique Adolphe de Rothschild
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 48
• Est. completion date: October 1, 2021
• Est. primary completion date: February 2, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Albinism
• Albinism, Ocular

Intervention

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

Locations

Country	Name	City	State
France	Fondation A de Rothschild	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Fondation Ophtalmologique Adolphe de Rothschild

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of genetics variants	among the genes involved in albinism, identification of those presents in parents of children with albinism	1 month