Status:
COMPLETED
NGS Panel of Incomplete Forms of Ocular Albinism
Lead Sponsor:
University Hospital, Bordeaux
Conditions:
Albinism, Ocular
Eligibility:
All Genders
Brief Summary
Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.
Detailed Description
Scientific context : Albinism is clinically characterised by cutaneous hypopigmentation and ophthalmologic features. These features common to all forms of albinism are foveal hypoplasia, misrouting of...
Eligibility Criteria
Inclusion
- Minor and adult patient.
- Patient presenting a clinical diagnosis of incomplete form of albinism with presence of at least 2 signs of ocular albinism among which nystagmus, low vision, foveal hypoplasia, retinal hypopigmentation, translucent irides, misrouting of the optic nerves at the chiasm.
- Registered for the social security system.
- Informed consent signed by patient or parent of a minor patient.
Exclusion
- Refusal to participate in research protocol.
Key Trial Info
Start Date :
November 23 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
February 28 2024
Estimated Enrollment :
53 Patients enrolled
Trial Details
Trial ID
NCT04495218
Start Date
November 23 2020
End Date
February 28 2024
Last Update
September 19 2024
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
Centre Hospitalier Universitaire de Bordeaux
Bordeaux, France