Analyzing RNA and proteins to improve diagnosis of neurogenetic diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Rouen University Hospital
  Rouen, France Recruiting

Study contacts

• Study coordinator: Gaël Nicolas, MD, PhD
• Email: gael.nicolas@chu-rouen.fr
• Phone: 0033232888747

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.