NCT06955624 Use of Omics Methods to Classify Variations of Uncertain Significance and Improve Diagnosis of Neurogenetic Diseases
| NCT ID | NCT06955624 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University Hospital, Rouen |
| Condition | Neurogenetic Diseases |
| Study Type | INTERVENTIONAL |
| Enrollment | 95 participants |
| Start Date | 2025-01-15 |
| Primary Completion | 2030-01-15 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
This trial targets 95 participants in total. It began in 2025-01-15 with a primary completion date of 2030-01-15.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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. 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.
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, 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 Criteria: 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). \-
Contact & Investigator
Frequently Asked Questions
Who can join the NCT06955624 clinical trial?
This trial is open to participants of all sexes, studying Neurogenetic Diseases. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06955624 currently recruiting?
Yes, NCT06955624 is actively recruiting participants. Contact the research team at gael.nicolas@chu-rouen.fr for enrollment information.
Where is the NCT06955624 trial being conducted?
This trial is being conducted at Rouen, France.
Who is sponsoring the NCT06955624 clinical trial?
NCT06955624 is sponsored by University Hospital, Rouen. The trial plans to enroll 95 participants.