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

NCT06955624 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 95

Last updated 2025-05-02

No results posted yet for this study

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

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

Sponsors & Collaborators

  • University Hospital, Lille

    collaborator OTHER

  • Groupe Hospitalier Pitie-Salpetriere

    collaborator OTHER

  • University Hospital, Rouen

    lead OTHER

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2025-01-15
Primary Completion
2030-01-15
Completion
2031-01-15

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06955624 on ClinicalTrials.gov