Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism

Status: Recruiting
Location: See location...
Intervention Type: Biological
Study Type: Observational
SUMMARY

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

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: No
View:

• 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.

Locations
Other Locations
France
Centre Hospitalier Universitaire de Bordeaux
Recruiting
Bordeaux
Contact Information
Primary
Eulalie LASSEAUX
eulalie.lasseaux@chu-bordeaux.fr
0557820193
Backup
Vincent MICHAUD
0557820353
Time Frame
Start Date: November 23, 2020
Estimated Completion Date: May 23, 2022
Participants
Target number of participants: 100
Treatments
Patient with a diagnosis of incomplete form of albinism
Sponsors
Leads: University Hospital, Bordeaux

This content was sourced from clinicaltrials.gov

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