Trials / Unknown
UnknownNCT02558478
Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing
- Status
- Unknown
- Phase
- —
- Study type
- Observational
- Enrollment
- 39 (estimated)
- Sponsor
- University Hospital, Strasbourg, France · Academic / Other
- Sex
- All
- Age
- 28 Days – 65 Years
- Healthy volunteers
- Accepted
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
| Type | Name | Description |
|---|---|---|
| GENETIC | blood sampling |
Timeline
- Start date
- 2015-09-01
- Primary completion
- 2018-09-01
- Completion
- 2018-09-01
- First posted
- 2015-09-24
- Last updated
- 2016-12-07
Locations
1 site across 1 country: France
Source: ClinicalTrials.gov record NCT02558478. Inclusion in this directory is not an endorsement.