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:
- 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.
- Confirm, refine or modify the genotype-phenotype correlations.
-
Edit important recommendations for:
-
The clinical and paraclinical exploration of a new patient based on genotype, especially for extraocular explorations, to book at certain genetic subtypes
- Prenatal care of a couple.
- Directing families to a therapeutic protocol in progress or in development.
- Individualize a panel of families without a mutation in the known genes and identify new genes responsible.
Where it runs
France (1)
- Necker-Enfants Malades Hospital, Paris, Paris