NCT02970266

Completed

Genetic Decryption of Leber Congenital Amaurosis (LCA) in a ...

Assistance Publique - Hôpitaux de Paris Source

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Other study identifiers

Sponsor study identifier

P081257

Study Type

observational

Actual enrollment (reported)

659

Locations

1 country

Sites

1

Timeline

Study Start

September 2010

Date type not reported

This date has not been verified as actual or estimated.

Primary Completion

September 2015

Actual (reported)

Study Completion

November 2016

Actual (reported)

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.

Registry Overview

Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.

Recruitment status: completed
Actual enrollment (reported): 659 participants
Study completion date: November 2016
Actual (reported)
Listed locations: 1 countries · 1 sites

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.

Study Start
September 2010
Date type not reported
This date has not been verified as actual or estimated.
Primary Completion
September 2015
Actual (reported)
Study Completion
November 2016
Actual (reported)
First Submitted
November 17, 2016
Actual (reported)
First Posted
November 21, 2016
Actual (reported)

Last Updated: November 21, 2016
Status Verified: November 2016
Last Update Submitted: November 18, 2016

Conditions

Leber Congenital Amaurosis

Keywords

Leber Congenital AmaurosisGenetic DecryptionThe genotype-phenotype correlationsEthnicity families

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

Sexall

Healthy VolunteersYes

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodNon-Probability Sample

Study Population

Patients with Leber Congenital Amaurosis (LCA) taking into account Ethnicity of families.

You may qualify if:

Patients:

Sponsors & Collaborators

Assistance Publique - Hôpitaux de Paris
Otherlead

Study Sites (1)

Necker-Enfants Malades Hospital

Paris, Paris, 75015, France

MeSH Terms

Conditions

Leber Congenital Amaurosis

Condition Hierarchy (Ancestors)

Eye Diseases, HereditaryEye DiseasesRetinal Diseases

Study Officials

Josseline KAPLAN, MD
Necker-Enfants Malades Hospital, 75015 Paris. France
PRINCIPAL INVESTIGATOR

Enrollment

659 participants (actual enrollment reported by the registry).

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 2010

Date type not reported

This date has not been verified as actual or estimated.

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Phase 1Completed

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Phase 1/2Completed

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Early Phase 1Active Not Recruiting

NCT02714816

Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65

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NCT07681778

Safety and Tolerability of Subretinal OPGx-RDH12-1001 for LCA-Associated Inherited Retinal Degeneration (LCA-IRD)

Phase 1/2Recruiting

NCT07026565

Psychotherapy Group for Parents of Children With LCA

Not ApplicableActive Not Recruiting

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.

Primary Completion

September 2015

Actual (reported)

Study Completion

November 2016

Actual (reported)

Last Updated

November 21, 2016

Record last verified: 2016-11

Source record

Download the complete ClinicalTrials.gov record imported by Syfrah, including fields not shown in this page. The registry may contain a newer revision.

Source: ClinicalTrials.gov.

JSON downloads include source attribution and retrieval details alongside the unchanged original record or the separately normalized values.

Registry identifier: NCT02970266
Data provider: ClinicalTrials.gov
Source updated: 2016-11-21
Normalization version: ctgov-legacy-1

Open registry record

Source retrieved: 2026-10-25 22:19:52 UTC

Locations

FR(1)

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

Primary Completion

Study Completion

First Submitted

First Posted

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (10)

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations