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

NCT02558478 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 39

Last updated 2016-12-07

No results posted yet for this study

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.

Conditions

Interventions

GENETIC

blood sampling

Sponsors & Collaborators

  • University Hospital, Strasbourg, France

    lead OTHER

Principal Investigators

  • Sophie SCHEIDECKER, MD · Hôpitaux Universitaires de Strasbourg

Eligibility

Min Age
28 Days
Max Age
65 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2015-09-30
Primary Completion
2018-09-30
Completion
2018-09-30

Countries

  • France

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02558478 on ClinicalTrials.gov