Identifying New Biomarkers in Early Charcot-Marie-Tooth Disease Type 1A in Children and Young Adults

What this Trial Is About

Charcot-Marie-Tooth disease type 1A CMT1A is the most common inherited nerve disorder, caused by a gene duplication affecting nerve function. Symptoms typically begin in early childhood and progress variably, but there is currently no established treatment. This research aims to find early disease and prognostic biomarkers in young CMT1A patients by studying gene and protein changes in animal models and translating these findings to humans to better predict disease severity and progression. The study will analyze samples from young CMT1A rats at two timepoints using transcriptomic and proteomic methods to identify early markers. In parallel, children, adolescents, and young adults aged 10 to 30 with CMT1A will be followed for 12 months. Participants will undergo various clinical assessments including novel clinical outcome measures CMTES-R, CMTNSv2-R, functional tests CMT-FOM, nerve conduction studies, quantitative MRI, and patient-reported questionnaires about pain, fatigue, cramps, walking impact, and global change. Blood and optional skin samples will be collected to measure gene expression of promising biomarker candidates. Participants will attend study visits for clinical evaluations, imaging, nerve tests, and sample collection over a year. Researchers will measure changes in clinical scores, functional ability, quality of life, imaging results, and gene expression. Additional analyses include cultivating fibroblasts from skin biopsies for future experiments. This comprehensive approach aims to establish biomarkers for early disease severity and progression, enabling future clinical trials and treatments in young CMT1A patients.

A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)