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

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ClinicalTrials.gov 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
Sponsor:
Information provided by (Responsible Party):
University Hospital, Strasbourg, France

Tracking Information
First Submitted Date August 1, 2016
First Posted Date August 9, 2016
Last Update Posted Date August 15, 2016
Study Start Date September 2015
Estimated Primary Completion Date November 2018   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: August 11, 2016)
Number of patients with a deleterious mutation [ Time Frame: 18 months ]
Original Primary Outcome Measures
 (submitted: August 4, 2016)
Number of patients with a deleterious mutation [ Time Frame: 18 months ]
The primary purpose of the protocol is to use high throughput sequencing to identify pathogenic variants in genes involved in RP
Change History Complete list of historical versions of study NCT02860520 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: August 11, 2016)
  • Percentage of positive diagnostic [ Time Frame: 18 months ]
  • Number of gene with a genotype-phenotype correlation [ Time Frame: 18 months ]
Original Secondary Outcome Measures
 (submitted: August 4, 2016)
  • Percentage of positive diagnostic [ Time Frame: 18 months ]
    The secondary purposes will be the following:
    • Determining the diagnostic yield
    • Study the genotype-phenotype correlation
  • Number of gene with a genotype-phenotype correlation [ Time Frame: 18 months ]
    The secondary purposes will be the following:
    • Determining the diagnostic yield
    • Study the genotype-phenotype correlation
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Clinical Implication of Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing.
Official Title Clinical Implication of the Molecular Diagnostic Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing (RP-SEQ-HD)
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
Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Whole blood
Sampling Method Non-Probability Sample
Study Population Patients with an RP and/or having a family history of RP
Condition Retinitis Pigmentosa
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: August 4, 2016)
450
Original Estimated Enrollment Same as current
Estimated Study Completion Date November 2018
Estimated Primary Completion Date November 2018   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages 2 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT02860520
Other Study ID Numbers 5724
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party University Hospital, Strasbourg, France
Study Sponsor University Hospital, Strasbourg, France
Collaborators Not Provided
Investigators
Principal Investigator: Hélène DOLLFUS, MD Hôpitaux Universitaires de Strasbourg
PRS Account University Hospital, Strasbourg, France
Verification Date August 2016