Neurogenetic Diseases
Conditions
Keywords
Neurogenetic diseases, Central nervous system disease
Brief summary
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.
Interventions
GENETICRNA 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
Sponsors
University Hospital, Lille
Groupe Hospitalier Pitie-Salpetriere
University Hospital, Rouen
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Intervention model description
Qualification: Category 2 Product or procedure: excluding health products (products not mentioned in Article L.5311-11 of the Public Health Code)
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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). \-
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| number and proportion of patients | through study completion, an average of 5 years | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Inclusion | through study completion, an average of 5 years | Inclusion of at least 50 participants with successful implementation of at least two procedures (see below, list of procedures) |
| Identification of at least one candidate biomarker linked to one or more abnormalities of a gene or group of genes. | through study completion, an average of 5 years | Identification of at least one candidate biomarker linked to one or more abnormalities of a gene or group of genes. |
Countries
France
Contacts
Primary ContactGaël Nicolas, MD, PhD
Outcome results
None listed