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Clinical Trial 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.


Clinical Trial Description

n/a


Study Design

Observational Model: Family-Based


Related Conditions & MeSH terms


NCT number NCT02558478
Study type Observational
Source University Hospital, Strasbourg, France
Contact Sophie SCHEIDECKER, MD
Phone 33.3.88.12.73.33
Email SOPHIE.scheidecker@chru-strasbourg.fr
Status Recruiting
Phase N/A
Start date September 2015
Completion date September 2018

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