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

NCT02970266 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 659

Last updated 2016-11-21

No results posted yet for this study

Summary

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:

* 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.
4. Individualize a panel of families without a mutation in the known genes and identify new genes responsible.

Conditions

  • Leber Congenital Amaurosis

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Josseline KAPLAN, MD · Necker-Enfants Malades Hospital, 75015 Paris. France

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2010-09-30
Primary Completion
2015-09-30
Completion
2016-11-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02970266 on ClinicalTrials.gov