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Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled,

Joshua Burns1, Robert A Ouvrier, Eppie M Yiu

  • 1Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, and Institute for Neuromuscular Research, Children's Hospital at Westmead, Sydney, NSW, Australia. Joshuab2@chw.edu.au

The Lancet. Neurology
|May 12, 2009
PubMed

Insights

High-dose ascorbic acid supplementation was safe for children with Charcot-Marie-Tooth disease type 1A (CMT1A). However, the treatment did not significantly improve nerve conduction velocity or other clinical outcomes in this 12-month study.

Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Background:

  • Charcot-Marie-Tooth disease type 1A (CMT1A) is a common inherited nerve disorder caused by PMP22 gene duplication, leading to peripheral nerve demyelination and motor dysfunction.
  • Previous studies suggested high-dose ascorbic acid may have remyelinating potential by reducing PMP22 expression, showing promise in animal models.

Purpose of the Study:

  • To evaluate the efficacy and safety of high-dose ascorbic acid supplementation in children diagnosed with CMT1A.
  • To assess the impact of ascorbic acid on nerve conduction velocity, muscle strength, motor function, and quality of life.

Main Methods:

  • A 12-month, randomized, double-blind, placebo-controlled trial involving 81 children (2-16 years) with CMT1A.
  • Participants received either high-dose oral ascorbic acid (approximately 30 mg/kg/day) or a placebo, with random assignment in a 1:1 ratio.
  • Primary outcome was median nerve motor conduction velocity; secondary outcomes included strength, function, and quality of life assessments. Intention-to-treat analysis was performed.

Main Results:

  • High-dose ascorbic acid showed a small, non-significant increase in median nerve motor conduction velocity compared to placebo (p=0.06).
  • No significant improvements were observed in neurophysiological measures, strength, motor function, or quality of life outcomes.
  • The treatment was well-tolerated, with only mild gastrointestinal symptoms reported and no serious adverse events.

Conclusions:

  • Twelve months of high-dose ascorbic acid supplementation is safe and well-tolerated in children with CMT1A.
  • The study did not meet its primary or secondary efficacy endpoints, indicating no significant clinical benefit from ascorbic acid treatment in this population.
Abstract

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