Queen Square Centre for Neuromuscular Diseases


Randomised double-blind placebo controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1a (CMT1A)

Sponsor University College London
Funder Muscular Dystrophy Campaign (MDC)
CI Professor Mary M Reilly
UK sites London Queen Square
Contact details m.laura@ucl.ac.uk
More information  


CMT1A is associated with a duplication of the gene for the peripheral myelin protein 22 (PMP22). To date there is no pharmacological treatment for CMT1A patients.

Treatment for CMT is limited to symptomatic therapy such as physiotherapy and surgery for skeletal deformities.

Recently, treatment with ascorbic acid (AA) has been shown to be effective in a mouse-model of the human disease. Treated animals had much less severe neuropathy compared to untreated controls. Some clinical parameters even improved during treatment.

Trial information

This is a phase III prospective, multi-centre, randomised, double-blind, placebo-controlled study.

Primary objective

To evaluate the efficacy of AA in treatment of CMT1A.


The study is now complete. 50 patients were enrolled at the MRC Centre for Neuromuscular Diseases.