Status:
RECRUITING
Use of Omics Methods to Classify Variations of Uncertain Significance and Improve Diagnosis of Neurogenetic Diseases
Lead Sponsor:
University Hospital, Rouen
Collaborating Sponsors:
University Hospital, Lille
Groupe Hospitalier Pitie-Salpetriere
Conditions:
Neurogenetic Diseases
Eligibility:
All Genders
Phase:
NA
Brief Summary
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. Howeve...
Eligibility Criteria
Inclusion
- 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, with inconclusive analysis because the result was either a variation of uncertain significance or the absence of a variant of interest (patients with inconclusive genomic results).
- 1b. Patient with neurological disease affecting the central nervous system, of confirmed monogenic or probable oligogenic cause (positive controls).
- A relative of a type 1a. or 1b. patient with no symptoms of the disease, after the expected age of onset of symptoms in the patient's own family (healthy relatives).
- For all 3 groups:
- Affiliation with a social security scheme
- Agreement to take part in the study with signature of a specific informed consent form for the study.
Exclusion
- For patients with inconclusive results: Patient with a neurological disease not suspected of a monogenic or oligogenic cause
- For healthy relatives: existence of a neurological disease (other than uncomplicated migraine) or psychiatric disease (other than simple anxiety stable under treatment).
- \-
Key Trial Info
Start Date :
January 15 2025
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
January 15 2031
Estimated Enrollment :
95 Patients enrolled
Trial Details
Trial ID
NCT06955624
Start Date
January 15 2025
End Date
January 15 2031
Last Update
May 2 2025
Active Locations (1)
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1
Rouen University Hospital
Rouen, France