Condition: Neurogenetic Diseases · Sponsor: University Hospital, Rouen
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.
Gaël Nicolas, MD, PhD · 0033232888747 · gael.nicolas@chu-rouen.fr
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| Rouen University Hospital | Rouen, France | Recruiting |
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Source record: clinicaltrials.gov/study/NCT06955624