Skip to main content
Clinical Trials/NCT02558478
NCT02558478
Unknown
Not Applicable

Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing

University Hospital, Strasbourg, France1 site in 1 country39 target enrollmentSeptember 2015

Overview

Phase
Not Applicable
Intervention
Not specified
Conditions
Neurosensory Diseases
Sponsor
University Hospital, Strasbourg, France
Enrollment
39
Locations
1
Primary Endpoint
Whole exome sequencing data
Last Updated
9 years ago

Overview

Brief Summary

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.

Registry
clinicaltrials.gov
Start Date
September 2015
End Date
September 2018
Last Updated
9 years ago
Study Type
Observational
Sex
All

Investigators

Sponsor
University Hospital, Strasbourg, France
Responsible Party
Sponsor

Eligibility Criteria

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)

Outcomes

Primary Outcomes

Whole exome sequencing data

Time Frame: 21 months

Study Sites (1)

Loading locations...

Similar Trials