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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

95 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-01-15

Study Completion Date

2031-01-15

Brief Summary

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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.

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Detailed Description

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Conditions

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Neurogenetic Diseases

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Qualification: Category 2 Product or procedure: excluding health products (products not mentioned in Article L.5311-11 of the Public Health Code)

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Controls

* Patients with neurological disease affecting the central nervous system, of confirmed monogenic or probable oligogenic cause (positive controls
* Unaffected relatives, showing no symptoms of the disease after the expected age of onset of symptoms in the family

Group Type OTHER

RNA and/or DNA methylation and/or protein analysis

Intervention Type GENETIC

RNA and/or DNA methylation and/or protein analysis from a blood sample or another tissue including dedifferenciation into induced pluripotent stem cells

Interventions

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RNA and/or DNA methylation and/or protein analysis

RNA and/or DNA methylation and/or protein analysis from a blood sample or another tissue including dedifferenciation into induced pluripotent stem cells

Intervention Type GENETIC

Eligibility Criteria

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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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Eligible Sex

ALL

Accepts Healthy Volunteers

Yes