Use of Omics Methods to Classify Variations of Uncertain Significance and Improve Diagnosis of Neurogenetic Diseases

Launched by UNIVERSITY HOSPITAL, ROUEN · Apr 24, 2025

Keywords

ClinConnect Summary

This clinical trial is looking to improve the diagnosis of neurogenetic diseases, which are conditions that affect the brain and nervous system and often have a genetic cause. Even after testing genes, many patients still don't get a clear answer about what's causing their symptoms. This study aims to help these patients by analyzing RNA and proteins from different body tissues, which may provide new insights into their conditions, especially for those who have had inconclusive genetic test results.

To participate, individuals must either have a neurological disease with uncertain genetic results, have a confirmed genetic cause for their disease, or be a healthy family member of someone in those first two groups. Participants will need to agree to take part in the study and sign a consent form. This trial is currently recruiting and welcomes all genders. It’s a chance for patients and their families to potentially uncover important information about their health and contribute to research that may help others.

Gender

ALL

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).
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