Use of Omics Methods to Classify Variations of Uncertain Significance and Improve Diagnosis of Neurogenetic Diseases (OMID-NEURO)
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.
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Gaël Nicolas, MD, PhD
- Phone Number: 0033232888747
- Email: gael.nicolas@chu-rouen.fr
Study Locations
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Rouen, France
- Recruiting
- Rouen University Hospital
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Contact:
- Gaël NICOLAS
- Phone Number: 0033232888747
- Email: gael.nicolas@chu-rouen.fr
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Description
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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Study Plan
How is the study designed?
Design Details
- Primary Purpose: Diagnostic
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
|---|---|
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Other: Controls
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RNA and/or DNA methylation and/or protein analysis from a blood sample or another tissue including dedifferenciation into induced pluripotent stem cells
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
number and proportion of patients
Time Frame: through study completion, an average of 5 years
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number and proportion of patients in the "Patients with inconclusive results" group for whom a final diagnosis can be made at the end of this research.
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through study completion, an average of 5 years
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Inclusion
Time Frame: through study completion, an average of 5 years
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Inclusion of at least 50 participants with successful implementation of at least two procedures (see below, list of procedures)
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through study completion, an average of 5 years
|
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Identification of at least one candidate biomarker linked to one or more abnormalities of a gene or group of genes.
Time Frame: through study completion, an average of 5 years
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Identification of at least one candidate biomarker linked to one or more abnormalities of a gene or group of genes.
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through study completion, an average of 5 years
|
Collaborators and Investigators
Sponsor
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Other Study ID Numbers
- 2024/0190/HP
- 2024-A01559-38 (Registry Identifier: RCB)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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