CompletedNot Applicable

NGS Panel of Incomplete Forms of Ocular Albinism

France53 participantsStarted 2020-11-23

Plain-language summary

Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.

Who can participate

Age range0 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * 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 Criteria: * Refusal to participate in research protocol.

What they're measuring

Percentage of patients for whom a molecular diagnosis is obtained based on the panel of targeted genes

Timeframe: Enrollment

Trial details

NCT IDNCT04495218

SponsorUniversity Hospital, Bordeaux

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2024-02-28

View on ClinicalTrials.gov More Albinism, Ocular trials