Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.
GENPHENACL
1 other identifier
observational
659
1 country
1
Brief Summary
The main objectives of this study are:
- 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Sep 2010
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
September 1, 2010
CompletedPrimary Completion
Last participant's last visit for primary outcome
September 1, 2015
CompletedStudy Completion
Last participant's last visit for all outcomes
November 1, 2016
CompletedFirst Submitted
Initial submission to the registry
November 17, 2016
CompletedFirst Posted
Study publicly available on registry
November 21, 2016
CompletedNovember 21, 2016
November 1, 2016
5 years
November 17, 2016
November 18, 2016
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA.
24 MONTHS
Secondary Outcomes (10)
Measurement of visual acuity using the logarithmic scale for children under 5
24 MONTHS
Measurement of visual acuity using Early Treatment Diabetic Retinopathy Study scale (ETDRS) for far vision
24 MONTHS
The "Parinaud Scale" for near vision (After the age of 6)
24 MONTHS
Visual field evaluation Survey
24 MONTHS
Measurement of refraction by portable automatic refractometer.
24 MONTHS
- +5 more secondary outcomes
Eligibility Criteria
Patients with Leber Congenital Amaurosis (LCA) taking into account Ethnicity of families.
You may qualify if:
- Patients:
- Patients of all ages
- Patients with symptoms the day of the first consultation allowing to ask the diagnosis of leber congenital amaurosis.
- Are affiliated to a social health care.
- Written informed consent must be given by patients or holders parental authority for minors.
- patients and siblings:
- Signed consent for molecular study by the participant or by holders parental authority for minors.
- Are affiliated to a social health care.
You may not qualify if:
- Patients whose exploration has laid differential diagnoses.
- Patients refusing the visits provided for in Protocol.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Necker-Enfants Malades Hospital
Paris, Paris, 75015, France
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Josseline KAPLAN, MD
Necker-Enfants Malades Hospital, 75015 Paris. France
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- RETROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
November 17, 2016
First Posted
November 21, 2016
Study Start
September 1, 2010
Primary Completion
September 1, 2015
Study Completion
November 1, 2016
Last Updated
November 21, 2016
Record last verified: 2016-11