Actively Recruiting
Use of Omics Methods to Classify Variations of Uncertain Significance and Improve Diagnosis of Neurogenetic Diseases
Led by University Hospital, Rouen · Updated on 2025-05-02
95
Participants Needed
1
Research Sites
313 weeks
Total Duration
On this page
Sponsors
U
University Hospital, Rouen
Lead Sponsor
U
University Hospital, Lille
Collaborating Sponsor
AI-Summary
What this Trial Is About
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 candidate mutation with insufficient knowledge to consider it as pathogenic or not. The aim of this project is to identify the cause of neurogenetic diseases in patients in situations of diagnostic wandering or dead ends by proposing the analysis of RNA and/or proteins from different tissues.
CONDITIONS
Official Title
Use of Omics Methods to Classify Variations of Uncertain Significance and Improve Diagnosis of Neurogenetic Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patient (adult or child) with a neurological disease affecting the central nervous system who had genomic analysis with inconclusive results (variation of uncertain significance or no variant of interest)
- Patient with neurological disease of confirmed monogenic or probable oligogenic cause (positive controls)
- Healthy relative of a patient with inconclusive or confirmed neurogenetic disease, without symptoms after the expected age of onset in the family
- Affiliation with a social security scheme
- Signed informed consent for study participation
You will not qualify if you...
- For patients with inconclusive results: neurological disease not suspected to be monogenic or oligogenic
- For healthy relatives: presence of neurological disease other than uncomplicated migraine
- For healthy relatives: presence of psychiatric disease other than simple anxiety stable under treatment
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Rouen University Hospital
Rouen, France
Actively Recruiting
Research Team
G
Gaël Nicolas, MD, PhD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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