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Functional disease progression in children with inherited peripheral neuropathies: A prospective cohort study
Katharina Vill1, Moritz Tacke1, Anna König1
1Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.
Insights
This study found that pediatric Charcot-Marie-Tooth disease (CMT) shows minimal progression over two years, particularly the common CMT1A subtype. These findings suggest CMT is slow-progressing in children, impacting trial outcome measures.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Charcot-Marie-Tooth disease (CMT) is a common inherited peripheral neuropathy.
- Pediatric CMT data on natural disease progression are limited.
- Understanding childhood CMT progression is crucial for management and clinical trials.
Purpose of the Study:
- To prospectively evaluate the natural disease course of pediatric Charcot-Marie-Tooth disease over two years.
- To assess changes in clinical status using the CMT Pediatric Scale (CMTPedS).
- To analyze disease progression across different CMT subtypes in children.
Main Methods:
- A two-year prospective observational cohort study involving 68 pediatric patients with CMT (ages 4-18).
- Standardized annual clinical assessments were performed.
- The primary outcome measure was the change in the CMTPedS score from baseline.
Main Results:
- The overall mean change in CMTPedS score was 0.0 ± 2.7 over two years, indicating no significant progression.
- The most prevalent subtype, CMT1A, showed minimal change.
- While CMT2A and CMT1B had numerically greater changes, they did not reach statistical significance.
Conclusions:
- Pediatric Charcot-Marie-Tooth disease exhibits a non-progressive or very slow-progressive course over a two-year period.
- The findings highlight the slow-progressing nature of pediatric CMT.
- Short-term clinical progression may not be a suitable outcome measure for therapeutic trials in pediatric CMT.
Abstract:
ObjectiveCharcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and usually manifests in the first two decades of life. However, prospective data on the natural course during childhood remain scarce.MethodsThis two-year, prospective, observational cohort study was conducted at two German pediatric neuromuscular centers. Annual standardized clinical assessments were performed. Sixty-eight pediatric patients with CMT (age range: 4-18 years; 35 females) were included. The primary outcome was the CMTPedS score, assessed at baseline and after a mean interval of 2.03 ± 0.23 years. Changes in the 11 individual CMTPedS subitems were also analyzed.ResultsThe mean baseline CMTPedS score for the total cohort (n=68) was 20.5 ± 8.8. Stratified by genotype, mean scores were: CMT1A (n=31), 16.5 ± 7.6; CMT1B (n=6), 21.5 ± 9.4; CMT2A (n=4), 35.8 ± 10.0; CMT4C (n=4), 27.0 ± 3.7; CMTX (n=4), 24.3 ± 10.1); others (n=13), 24.6 ± 7.7; genetically unsolved (n=6), 19.8 ± 8.6. Over a two-year observation period, the mean change in CMTPedS was 0.0 ± 2.7, indicating overall no significant progression.ConclusionIn this well-characterized cohort, overall disease course was non-progressive over two years-most notably in CMT1A, the most prevalent subtype. CMT2A and CMT1B showed numerically greater changes, yet none reached statistical significance. These results emphasize the slow-progressive nature of pediatric CMT and highlight the limitations of using short-term clinical progression as an outcome measure in therapeutic trials.
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