NCT06955624

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

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 95 (estimated)
• Sponsor: University Hospital, Rouen · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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.

Conditions

• Neurogenetic Diseases

Interventions

Type	Name	Description
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

Timeline

• Start date: 2025-01-15
• Primary completion: 2030-01-15
• Completion: 2031-01-15
• First posted: 2025-05-02
• Last updated: 2025-05-02

Locations

1 site across 1 country: France