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RECRUITING
NCT06955624
NA

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

Sponsor: University Hospital, Rouen

View on ClinicalTrials.gov

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.

Key Details

Gender

All

Age Range

Any - Any

Study Type

INTERVENTIONAL

Enrollment

95

Start Date

2025-01-15

Completion Date

2031-01-15

Last Updated

2025-05-02

Healthy Volunteers

Yes

Interventions

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

Locations (1)

Rouen University Hospital

Rouen, France