Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing (GEN-NEUROSENS)

December 6, 2016 updated by: University Hospital, Strasbourg, France
Next Generation Sequencing (NGS) strategy is a powerful tool to identify genes implicated in very rare diseases for which the previous genetic explorations remain negative to date. The aim of this project is based on groups of patients with original clinical phenotypes including neurosensory impairment without genetic cause identified to date. The investigators will study these families using whole exome sequencing to potentially identify new genes and new underlying biological pathways involved in neurosensory diseases.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Anticipated)

39

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Strasbourg, France, 67091
        • Recruiting
        • LABORATOIRE DE CYTOGENETIQUE, Hôpitaux Universitaires de Strasbourg
        • Sub-Investigator:
          • Elise SCHAEFER, MD
        • Sub-Investigator:
          • Hélène DOLLFUS, MD
        • Contact:
        • Principal Investigator:
          • Sophie SCHEIDECKER, MD
        • Principal Investigator:
          • Yaumara PERDOMO, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

4 weeks to 65 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

This project focuses on families with unsual phenotypes who have sensorineural disease with retinal degeneration AND/OR deafness. Our first hypothesis is that these clinical entities are associated with new genes not described to date. However, it is impossible to exclude at this stage an allelic variability (mutations in genes already known but with an unusual phenotype) or mutations in genes implicated in neurosensory diseases but not detected by prior exploration. These situations illustrate the problem of genetic complexity and difficulty of the phenotype correlations - genotype.

Description

Inclusion Criteria:

  • Original phenotype with neurosensory diseases
  • Written, informed consent obtained

Exclusion Criteria:

  • Refusal to participate at the study
  • Prior inclusion in a similar study (NGS)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Whole exome sequencing data
Time Frame: 21 months
21 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Strasbourg, France

Investigators

  • Principal Investigator: Sophie SCHEIDECKER, MD, Hopitaux Universitaires de Strasbourg

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2015

Primary Completion (Anticipated)

September 1, 2018

Study Completion (Anticipated)

September 1, 2018

Study Registration Dates

First Submitted

September 11, 2015

First Submitted That Met QC Criteria

September 21, 2015

First Posted (Estimate)

September 24, 2015

Study Record Updates

Last Update Posted (Estimate)

December 7, 2016

Last Update Submitted That Met QC Criteria

December 6, 2016

Last Verified

December 1, 2016

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 5885

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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