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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02860520
Recruitment Status : Unknown
Verified August 2016 by University Hospital, Strasbourg, France.
Recruitment status was:  Recruiting
First Posted : August 9, 2016
Last Update Posted : August 15, 2016
Information provided by (Responsible Party):
University Hospital, Strasbourg, France

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 (

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

Condition or disease
Retinitis Pigmentosa

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Study Type : Observational
Estimated Enrollment : 450 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical Implication of the Molecular Diagnostic Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing (RP-SEQ-HD)
Study Start Date : September 2015
Estimated Primary Completion Date : November 2018
Estimated Study Completion Date : November 2018

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Number of patients with a deleterious mutation [ Time Frame: 18 months ]

Secondary Outcome Measures :
  1. Percentage of positive diagnostic [ Time Frame: 18 months ]
  2. Number of gene with a genotype-phenotype correlation [ Time Frame: 18 months ]

Biospecimen Retention:   Samples With DNA
Whole blood

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   2 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients with an RP and/or having a family history of RP

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02860520

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Contact: Hélène DOLLFUS, MD
Contact: Jean MULLER, PHD

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Service d'Ophtalmologie CHU Hôpital Général Not yet recruiting
Dijon, France, 21000
Contact: Catherine CREUZOT-GARCHER, MD   
Principal Investigator: Catherine CREUZOT-GARCHER, MD         
Sub-Investigator: Alain BRON, MD         
Service d'Ophtalmologie, Hôpital Robert Debré, CHR Not yet recruiting
Reims, France, 51092
Contact: Carl ARNDT, MD   
Principal Investigator: Carl ARNDT, MD         
Sub-Investigator: Dominique GAILLARD, MD         
Affections Rares en Génétique Ophtalmologique (CARGO) Hôpital Civil, Hôpitaux Universitaires de Strasbourg Recruiting
Strasbourg, France, 67091
Contact: Hélène DOLLFUS, MD   
Contact: Jean MULLER, PHD   
Principal Investigator: Hélène DOLLFUS, MD         
Sub-Investigator: Yaumara PERDOMO, MD         
Service d'Ophtalmologie, CHU BRABOIS Not yet recruiting
Vandoeuvre Les Nancy, France, 54500
Contact: Karine ANGIOI-DUPREZ, MD   
Principal Investigator: Karine ANGIOI-DUPREZ, MD         
Sub-Investigator: Bruno LEHEUP, MD         
Sub-Investigator: Philippe JONVEAUX, MD         
Sponsors and Collaborators
University Hospital, Strasbourg, France
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Principal Investigator: Hélène DOLLFUS, MD Hôpitaux Universitaires de Strasbourg
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Responsible Party: University Hospital, Strasbourg, France Identifier: NCT02860520    
Other Study ID Numbers: 5724
First Posted: August 9, 2016    Key Record Dates
Last Update Posted: August 15, 2016
Last Verified: August 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by University Hospital, Strasbourg, France:
Retinitis pigmentosa:
Additional relevant MeSH terms:
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Retinitis Pigmentosa
Retinal Diseases
Eye Diseases
Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, Inborn