Clinical Implication of Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing.

Retinitis Pigmentosa Clinical Trial

— RP-SEQ-HD  

Official title:

Clinical Implication of the Molecular Diagnostic Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing (RP-SEQ-HD)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02860520
• Other study ID #: 5724
• Status: Recruiting
• Start date: November 3, 2015
• Est. completion date: August 2025

Study information

• Verified date: April 2022
• Source: University Hospital, Strasbourg, France
• Contact: Hélène DOLLFUS, MD
• Phone: 33.3.88.12.81.19
• Email: helene.dollfus[@]chru-strasbourg.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Est. completion date: August 2025
• Est. primary completion date: August 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 2 Years and older

Eligibility

Inclusion Criteria:

• 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

Exclusion Criteria:

• 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

Related Conditions & MeSH terms

• Retinitis
• Retinitis Pigmentosa

Locations

Country	Name	City	State
France	Service d'Ophtalmologie CHU Hôpital Général	Dijon
France	Service d'Ophtalmologie, Hôpital Robert Debré, CHR	Reims
France	Affections Rares en Génétique Ophtalmologique (CARGO) Hôpital Civil, Hôpitaux Universitaires de Strasbourg	Strasbourg
France	Service d'Ophtalmologie, CHU BRABOIS	Vandoeuvre Les Nancy

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of patients with a deleterious mutation		18 months
Secondary	Percentage of positive diagnostic		18 months
Secondary	Number of gene with a genotype-phenotype correlation		18 months