Condition: CMT · CMT (Charcot Marie Tooth Disease) · CMT - Charcot-Marie-Tooth Disease · Sponsor: University Medical Center Goettingen
The most common inherited neuropathy is Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of the gene expressing PMP22. CMT1A patients develop symptoms in early childhood with variable progression and there is no established therapy until now. Therapy must start in childhood, before peripheral nerves degenerate. However, the investigators lack easily obtainable biomarkers in early disease stages. In peripheral nerves from young CMT1A rats, the invstigators found changes in gene regulation that predicted the clinical disease severity later in adulthood, and gene expression from blood samples in young CMT1A rats were strong predictors of the future disease course. In blood samples from adult CMT1A patients, changes in gene expression also correlated with disease severity, demonstrating that findings can be "translated" from CMT rats to patients. Objectives: In CMT-MODs, the investigators will identify disease and prognostic biomarkers in young CMT1A patients. Strategy/ Methodology: In a translational approach, the investigators will first perform a multi-omic analysis (transcriptomic and proteomic) in sciatic nerves, blood and skin of young CMT1A rats at two timepoints in order to identify novel early markers of disease severity. In parallel, the investigators will assess a large cohort of CMT1A children, adolescents and young adults aged 10-30 years over 12 months applying the novel clinical outcome measures CMT Examination Score/CMT Neuropathy Score Versi…
This description comes directly from the study's public registry record.
Michael W Sereda, Prof. of Neurology · +49 551 3964162 · sereda@mpinat.mpg.de
Beschan Ahmad · beschan.ahmad@med.uni-goettingen.de
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| University Medical Centre | Göttingen, Germany | Recruiting |
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Source record: clinicaltrials.gov/study/NCT07476365