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Study identifier: NCT06955624 Synced from ClinicalTrials.gov · July 29, 2026
● Recruiting

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

Condition: Neurogenetic Diseases  ·  Sponsor: University Hospital, Rouen

PhaseNA
Planned participants95
Who can joinAll sexes, N/A to no upper limit
Healthy volunteersYes

About this study

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.

This description comes directly from the study's public registry record.

Talk to the study team

Gaël Nicolas, MD, PhD  ·  0033232888747  ·  gael.nicolas@chu-rouen.fr

Always discuss trial participation with your own doctor first.

Locations (1)

Rouen University HospitalRouen, FranceRecruiting

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Source record: clinicaltrials.gov/study/NCT06955624