An interventional study of RNA and/or DNA methylation and/or protein analysis in Neurogenetic Diseases, sponsored by University Hospital, Rouen. Recruiting at 1 site in France. Per ClinicalTrials.gov, last updated 2025-05-02.
Sponsored by University Hospital, Rouen · Not applicable, Interventional, and Diagnostic
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.
University Hospital, Rouen is the lead sponsor of 410 studies on the registry; 104 are open to participants now.
Counted across the registry records on this site, refreshed daily.
For this project, the inclusion of 3 participant profiles is required:
For all 3 groups:
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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* 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
Genetic: 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
number and proportion of patients
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.
Time frame: through study completion, an average of 5 years
Inclusion
Inclusion of at least 50 participants with successful implementation of at least two procedures (see below, list of procedures)
Time frame: 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.
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
Plan to share: No
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University Hospital, Rouen