NCT02860520

Brief Summary

The retinitis pigmentosa (RP) are genetic conditions that cause retinal degeneration leading to severe low vision and is the leading cause of consultation in reference centers dedicated to the ophthalmic genetics. These rare diseases are characterized by a triple heterogeneity (clinical, genetic and molecular), which made them unreachable by traditional molecular diagnostic sequencing technology by the large number of genes to be tested (\> 190). The advent of high-throughput sequencing (NGS) and targeted capture has opened unexpected possibilities of investigation and ultimately to improve the care of patients. This project aims to study the genetic and molecular epidemiology of an interregional french (grand EST) cohort of patients. Patients receive a detailed retinal phenotype (visual acuity, visual field, photographs of the fundus and ERG). Their DNA will be analyzed by NGS targets the 190 known genes (https://sph.uth.edu/retnet/). This research will provide a molecular epidemiological cohort study compared to prior publications on the frequency of genes involved. The benefit for patients is important to: establish a mode of transmission of the disease and optimize genetic counseling (currently very empirical); establish phenotype-genotype correlations in the French population (very few studies to date) and from the data of international literature; identify patients likely to be included in future therapeutic protocols of research; identify patients with significant potential for future projects to identify new genes. The primary purpose of the protocol is to use high throughput sequencing to identify pathogenic variants in genes involved in RP. The secondary purposes will be the following:

  • Determining the diagnostic yield
  • Study the genotype-phenotype correlation. The secondary purposes will be the following:
  • Determining the diagnostic yield
  • Study the genotype-phenotype correlation

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
500

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Nov 2015

Longer than P75 for all trials

Geographic Reach
1 country

4 active sites

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

November 3, 2015

Completed
9 months until next milestone

First Submitted

Initial submission to the registry

August 1, 2016

Completed
8 days until next milestone

First Posted

Study publicly available on registry

August 9, 2016

Completed
9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 1, 2025

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

August 1, 2025

Completed
Last Updated

April 20, 2022

Status Verified

April 1, 2022

Enrollment Period

9.8 years

First QC Date

August 1, 2016

Last Update Submit

April 19, 2022

Conditions

Retinitis Pigmentosa

Keywords

Retinitis pigmentosa:

Outcome Measures

Primary Outcomes (1)

  • Number of patients with a deleterious mutation

    18 months

Secondary Outcomes (2)

  • Percentage of positive diagnostic

    18 months

  • Number of gene with a genotype-phenotype correlation

    18 months

Eligibility Criteria

Age2 Years+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with an RP and/or having a family history of RP

You may qualify if:

  • Subject of both sex, aged at least 2 years, being diagnosed with an RP, and/or having a family history of RP
  • Informed about the results of the preliminary medical visit, or which (s) holder (s) parental authority or the guardian / curator has (have) was (been) informed
  • Informed consent signed
  • Affiliation to the French health system

You may not qualify if:

  • The patient does not want to participate to the protocol
  • Intercurrent diseases do not allow the practice of tests provided for this protocol
  • Phenocopy
  • Subject excluded or being excluded by another protocol
  • Subject in emergency case
  • Subject under judicial protection

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (4)

Service d'Ophtalmologie CHU Hôpital Général

Dijon, 21000, France

NOT YET RECRUITING

Service d'Ophtalmologie, Hôpital Robert Debré, CHR

Reims, 51092, France

NOT YET RECRUITING

Affections Rares en Génétique Ophtalmologique (CARGO) Hôpital Civil, Hôpitaux Universitaires de Strasbourg

Strasbourg, 67091, France

RECRUITING

Service d'Ophtalmologie, CHU BRABOIS

Vandœuvre-lès-Nancy, 54500, France

NOT YET RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood

MeSH Terms

Conditions

Retinitis Pigmentosa

Condition Hierarchy (Ancestors)

Eye Diseases, HereditaryEye DiseasesRetinal DystrophiesRetinal DegenerationRetinal DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Hélène DOLLFUS, MD

    Hôpitaux Universitaires de Strasbourg

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Hélène DOLLFUS, MD

CONTACT

33.3.88.12.81.19helene.dollfus@chru-strasbourg.fr

Jean MULLER, PHD

CONTACT

33.3.69.55.11.66jean.muller@chru-strasbourg.fr

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 1, 2016

First Posted

August 9, 2016

Study Start

November 3, 2015

Primary Completion

August 1, 2025

Study Completion

August 1, 2025

Last Updated

April 20, 2022

Record last verified: 2022-04

Data Sharing

IPD Sharing
Will not share

Locations

FR(4)