Paediatric Charcot-Marie-Tooth Disease – Longitudinal Evaluation of Potential Disease Progression Biomarkers

Activity: Talk or presentation types › Oral presentation

Description

Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy, often presenting in childhood. Currently, there are no effective treatment and biomarkers for disease severity and progression available. However, plasma neurofilament light chain (NfL) has been reported as a potential marker for disease activity. The aim of this study was to characterize the paediatric CMT (pCMT) cohort in Latvia and demonstrate the clinical disease progression and the change of NfL levels over a 3-year-period.. 21 CMT patients under 18 years of age were enrolled in the study. Repeated evaluation was performed in 11 patients in a 3-year interval. Disease severity was evaluated with CMT Neuropathy Score Version 2 (CMTNSv2). Plasma NfL concentration was measured using the Single molecule array (Simoa) NfL assay.. 21 pCMT patients with mean age 12 (SD=4) were enrolled in the study. 11/21 of patients were female. CMT subtypes included CMT1A (n=9), CMTX1 (n=2), HINT (n=2), CMT2A (n=1) and HNPP (n=1). For a quarter of patients (N=5) the genetic cause was unknown, while one patient was not tested. On the repeated evaluation CMTNSv2 did not change (0.0, IQR = 0) from the baseline and median NfL levels decreased (−1.1 pg/mL, IQR = 4.4). There was no difference in plasma NfL concentration between genetic CMT subtypes (p=0.058). There was no association between the change in plasma NfL concentration and change in disease severity (Spearman correlation, r = 0.256, p = 0.447).. In this study most common pCMT type is CMT1A, and in 24% (n=5) of cases the genetic diagnosis is unknown. No progression of the disease severity over a 3-year interval was detected. Furthermore, median NfL level decreased. Consequently, our data reveal that NfL level does not reflect the rate of disease progression in pCMT.
Period29 Mar 2023
Event titleRSU International Research Conference 2023: Knowledge for Use in Practice
Event typeConference
OrganiserRīga Stradiņš University
LocationRiga, LatviaShow on map
Degree of RecognitionInternational

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