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

• Conditions: Hearing Loss; Neurosensory Diseases; Retinopathy

• Registration Number: NCT02558478
• Lead Sponsor: University Hospital, Strasbourg, France

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2015-09
• Study First Submitted: 2015-09-11
• Study First Submitted QC: 2015-09-21
• Study First Posted: 2015-09-24
• Status Verified: 2016-12
• Last Update Submitted: 2016-12-06
• Last Update Posted: 2016-12-07
• Primary Completion: 2018-09
• Study Completion: 2018-09

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 39

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Whole exome sequencing data	21 months

Trial Locations

Locations (1)

LABORATOIRE DE CYTOGENETIQUE, Hôpitaux Universitaires de Strasbourg; 🇫🇷 Strasbourg, France