Charcot-Marie-Tooth Disease Type 1A (CMT1A) or Hereditary Motor and Sensory Neuropathies (HMSN Ia)
Conditions
Interventions
Ascorbic acid 1000 mg (4 capsules of 250 mg) twice daily during one year or placebo in 4 capsules twice daily during one year.
Sponsors
Department of Neurology
Academic Medical Center, University of Amsterdam
P.O.Box 22660
Amsterdam, Netherlands
Eligibility
Inclusion criteria
Inclusion criteria: 1. DNA-proven CMT1A patients; 2. Age 12-25 years; 3. CMT 1A patients with symptomatology defined as muscle weakness in at least foot dorsiflexion.
Exclusion criteria
Exclusion criteria: 1. Due to possible influence on severity of the neuropathy: a. Known other disease that may cause a neuropathy, that may decrease mobility, or that may lead to severe disability or death in a short time; b. Medication that may cause a neuropathy; c. Chronic alcohol abuse; 2. Due to study medication (ascorbic acid): a. Regular use of vitamin C; b. Clinical or echographic signs of nephrolithiasis; c. Reduced glomerular filtration rate; d. Iron overload; e. No regular dental control at the dentist; f. Pregnancy or active pregnancy wish for women; 3. Due to study design and primary outcome: a. Not signing the informed consent; b. Psychiatric co-morbidity which may influence compliance; c. Not being comfortable during nerve conduction studies of the median nerve; d. A too small CMAP amplitude of the abductor pollicis brevis muscle for a proper determination of the nerve conduction velocity of the median nerve.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Change in motor nerve conduction velocity of the median nerve after 1 year. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Change in minimal F response latency of the median nerve after 1 year; 2. Changes in compound muscle action potential amplitude and area after 1 year; 3. Change in motor unit number estimation of the abductor pollicis brevis muscle after 1 year; 4. Changes in handgrip strength, strength of armflexors, foot dorsiflexors, knee extensors and hip flexors after 1 year; 5. Change in overall disability sum score after 1 year; 6. Change in AMC Linear Disability Scale score after 1 year; 7. Evaluation of serum ascorbic acid concentrations during 1 year; 8. Evaluation of side effects during 1 year. | — |
Contacts
Public ContactC. Verhamme
Academic Medical Center (AMC), Department of Neurology, P.O. Box 22660
Outcome results
None listed