Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A (CMT1A) Trial

Completed

Conditions: Charcot-Marie-Tooth Disease Type 1A (CMT1A), Hereditary Motor and Sensory Neuropathies (HMSN Ia)
Nervous System Diseases
Hereditary and idiopathic neuropathy

Registration Number: ISRCTN56968278

Lead Sponsor: Academic Medical Centre, Department of Neurology (Netherlands)

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: All

Target Recruitment: 12

Inclusion Criteria

1. DNA-proven CMT1A patients
2. Age 12-25 years
3. CMT1A patients with symptomatology defined as muscle weakness in at least foot dorsiflexion

Exclusion Criteria

1. Due to possible influence on severity of the neuropathy:
1.1. 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
1.2. Medication that may cause a neuropathy
1.3. Chronic alcohol abuse
2. Due to study medication (ascorbic acid):
2.1. Regular use of vitamin C
2.2. Clinical or echographic signs of nephrolithiasis
2.3. Reduced glomerular filtration rate
2.4. Iron overload
2.5. No regular dental control at the dentist
2.6. Pregnancy or active pregnancy wish for women
3. Due to study design and primary outcome:
3.1. Not signing the informed consent
3.2. Psychiatric co-morbidity which may influence compliance
3.3. Not being comfortable during nerve conduction studies of the median nerve
3.4. A too small Compound Muscle Action Potential (CMAP) amplitude of the abductor pollicis brevis muscle for a proper determination of the nerve conduction velocity of the median nerve

Study & Design

Study Type: Interventional

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Change in motor nerve conduction velocity of the median nerve after 1 year

Secondary Outcome Measures

Name	Time	Method
1. Change in minimal F response latency of the median nerve after 1 year<br>2. Changes in compound muscle action potential amplitude and area after 1 year<br>3. Change in motor unit number estimation of the abductor pollicis brevis muscle after 1 year<br>4. Changes in handgrip strength, strength of armflexors, foot dorsiflexors, knee extensors and hip flexors after 1 year<br>5. Change in overall disability sum score after 1 year<br>6. Change in AMC Linear Disability Scale score after 1 year<br>7. Evaluation of serum ascorbic acid concentrations during 1 year<br>8. Evaluation of side effects during 1 year