Clinical Trial: High Dose Ascorbic Acid Treatment of CMT1A

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: A Randomized, Placebo-controlled, Double Masked 120 Subject "Futility Design" Clinical Trial of Ascorbic Acid Treatment of Charcot Marie Tooth Disease Type 1A.

Brief Summary: This study will look at the impact of ascorbic acid (Vitamin C) on the progression of disease in people with CMT1A as compared to volunteers receiving a placebo. This study will assess whether is it futile to proceed with a larger, longer-term, placebo-controlled study.

Detailed Summary: Charcot Marie Tooth disease (CMT), or inherited peripheral neuropathies, are among the most frequent heritable disorders, affecting approximately 1 in 2500 people. The most frequent genetic form of CMT is CMT1A. CMT1A is caused by a 1.4 Mb duplication within chromosome 17p11.2 in the region containing the PMP22 gene. Most subjects with CMT1A have a "typical" phenotype characterized by onset in childhood or early adulthood, distal weakness, sensory loss, foot deformities and absent reflexes. How increased expression of PMP22 causes these disabilities is unknown but is currently being investigated in both animal and tissue culture systems. In this study, researchers will evaluate whether ascorbic acid (Vitamin C), administered orally, slows clinical progression of CMT1A and affects the PMP22 mRNA levels of myelinated peripheral nerve fibers obtained from biopsies of glabrous skin.
Sponsor: Wayne State University

Current Primary Outcome: Mean change in the CMT Neuropathy Scale following high dose ascorbic acid ingestion, assessed at baseline and every 6 months throughout the trial. [ Time Frame: 25 months per subject from baseline to completion. ]

Original Primary Outcome: Same as current

Current Secondary Outcome: Evaluation of PMP22 mRNA levels of myelinated peripheral nerve fibers. [ Time Frame: Baseline and Month 24. ]

Original Secondary Outcome: Same as current

Information By: Wayne State University

Dates:
Date Received: June 8, 2007
Date Started: April 2007
Date Completion:
Last Updated: March 4, 2013
Last Verified: March 2013