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Completed

NCT Number: NCT00484510

High Dose Ascorbic Acid Treatment of CMT1A

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.

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Key information

Conditions

Charcot-Marie-Tooth Disease, Type IA Charcot-Marie-Tooth Disease Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Heredodegenerative Disorders, Nervous System Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neuromuscular Diseases Peripheral Nervous System Diseases Polyneuropathies

Age range

13 year–70 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2 / Phase 3

Primary location

Johns Hopkins University, Dept of Neurology, Baltimore, Maryland, United States

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • The subject has CMT1A, defined by the duplication on chromosome 17p11.2 performed by either Pulse Field Gel Electrophoresis or Fluorescence In Situ Hybridization (FISH) by a CLIA certified laboratory, OR the subject has a first or second degree relative with a documented duplication performed by the above methods AND the subject has uniform motor conduction slowing of the median or ulnar nerve between 16 and 30 m/s.
  • The subject is between 13 and 70 years of age.
  • The subject, if 18 years or older, has signed the Informed Consent Form and agrees to follow the stipulations of the protocol.
  • If the subject is less than 18, his or her parents or guardians have signed the Informed Consent Form and agree to follow the stipulations of the protocol. The subject has also signed a written assent form.

Exclusion criteria

  • A known neuropathy from another source (For example, diabetes, drug induced, alcohol, etc.)
  • The subject has ever received Vincristine.
  • The subject has a known allergy to ascorbic acid.
  • The subject has ever had kidney stones.
  • The subject has a known history of G6PD deficit.
  • The subject has a history of hemochromatosis.
  • The subject suffers from a serious illness or medical condition that is not stabilized or that could require hospitalization.
  • The subject has a high ascorbic acid level at screening.
  • The subject is pregnant or nursing.
  • The subject, in the opinion of the investigator, is unlikely to comply with the study protocol or is unsuitable for any other reason.
  • The subject participates to another clinical trial or is still within a washout period of a previous clinical trial.
  • The subject is taking neurotoxic medications.

Treatment and study plan

Ascorbic acid (vitamin C)

Drug

Eight 500 mg capsules/day of ascorbic acid. Subjects will take four (4)capsules each morning and four (4) capsules each evening for 24 months. (Total 4 gr/day).

Placebo

Drug

Eight 500 mg capsules/day of placebo. Subjects will take four (4)capsules each morning and four (4) capsules each evening for 24 months.

Primary outcomes

  1. 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.

Secondary outcomes

  1. Evaluation of PMP22 mRNA levels of myelinated peripheral nerve fibers.

    Time frame: Baseline and Month 24.

Sponsors and collaborators

Lead sponsor

Wayne State University

Other

Collaborators

  • Charcot-Marie-Tooth Association
  • Muscular Dystrophy Association

Registry information

Official study title

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

Important dates

Study start
2007
Primary completion
2012
Study completion
2012
First posted
Jun 11, 2007
Registry last updated
Mar 6, 2013

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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