Analyzing RNA and proteins to improve diagnosis of neurogenetic diseases

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

This study is trying to see if looking at RNA and proteins from patients with unclear neurogenetic diseases can help doctors give better diagnoses.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 95 (estimated)
• Sex: All
• Sponsor: University Hospital, Rouen (Academic / other)
• Locations: 1 site (Rouen)
• Trial ID: NCT06955624 on ClinicalTrials.gov

What this trial studies

This project aims to enhance the diagnosis of neurogenetic diseases by analyzing RNA and proteins from various tissues in patients who have previously undergone genomic analysis but received inconclusive results. The study focuses on individuals with neurological disorders affecting the central nervous system, particularly those with uncertain genetic variations or no identified mutations. By employing advanced omics methods, the research seeks to clarify the genetic underpinnings of these conditions and provide more definitive diagnoses.

Who should consider this trial

Good fit: Ideal candidates include patients with neurological diseases who have inconclusive genomic analysis results and their healthy relatives.

Not a fit: Patients without a neurological disease or those who have not undergone genomic analysis may not benefit from this study.

Why it matters

Potential benefit: If successful, this approach could lead to improved diagnostic accuracy for patients with neurogenetic diseases, enabling better-targeted treatments.

How similar studies have performed: Other studies utilizing omics methods for genetic diagnosis have shown promise, indicating potential success for this approach.

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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Where this trial is running

Rouen

• Rouen University Hospital — Rouen, France (Recruiting)

Study contacts

• Study coordinator: Gaël Nicolas, MD, PhD

Conditions Neurogenetic Diseases; Neurogenetic diseases; Central nervous system disease