Use of Omics Methods to Classify Variations of Uncertain Significance and Improve Diagnosis of Neurogenetic Diseases
Recruiting
N/A
Interventional Study
Neurogenetic Diseases
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
At a Glance
- Sex
- Any
- Study type
- Interventional
- Purpose
- Diagnostic
- Participants needed
- 95 (estimated)
- Sponsor
- University Hospital, Rouen · Other
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About This Trial
Many neurological disorders show a strong genetic basis, from hereditary diseases caused by a single mutation in a given gene, to diseases caused by combinations of strong genetic risk factors. However, even after the sequencing of the appropriate genes, a large proportion of patients remains undiagnosed, either because there is no candidate mutation observed, or in case of identification of a can…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
For this project, the inclusion of 3 participant profiles is required:
* 1a. Patient, major or minor, with a neurological disease affecting the central nervous system, who has already benefited from a genomic analysis (panel, exome or genome sequencing) as part of routine care,…
Contacts