RP Cure Tracker

Trials / NCT02970266

Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.

Completed Observational Natural history / observational

Sponsor
Assistance Publique - Hôpitaux de Paris
Treatment
Not listed
Gene
Not stated
Conditions
Leber Congenital Amaurosis
Ages
Any to no upper limit
Enrollment
659 participants
Started
2010-09
Main results expected
2015-09
Results posted
Not yet
Record last updated
2016-11-21

What the study is testing

The main objectives of this study are:

  1. Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA taking into account ethnicity of families.
  2. Confirm, refine or modify the genotype-phenotype correlations.
  3. Edit important recommendations for:

  4. The clinical and paraclinical exploration of a new patient based on genotype, especially for extraocular explorations, to book at certain genetic subtypes

  5. Prenatal care of a couple.
  6. Directing families to a therapeutic protocol in progress or in development.
  7. Individualize a panel of families without a mutation in the known genes and identify new genes responsible.

Where it runs

France (1)

Open on ClinicalTrials.gov for contacts and eligibility