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.
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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

Gaël Nicolas, MD, PhD

0033232888747

gael.nicolas@chu-rouen.fr

CONTACT