Back to resultsHigh Dose Ascorbic Acid Treatment of CMT1A
Primary Purpose
Charcot-Marie-Tooth Disease, Type Ia
Status
Completed
Phase
Phase 2
Locations
United States
Study Type
Interventional
Intervention
Ascorbic acid (Vitamin C)
placebo
Sponsored by
About this trial
This is an interventional treatment trial for Charcot-Marie-Tooth Disease, Type Ia focused on measuring Ascorbic Acid, Vitamin C, Charcot Marie Tooth, CMT, CMT1a
Eligibility Criteria
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.
Sites / Locations
- Johns Hopkins University, Dept of Neurology
- Wayne State University, Dept of Neurology
- University of Rochester Medical Center, Dept of Neurology
Arms of the Study
Arm 1
Arm 2
Arm Type
Experimental
Placebo Comparator
Arm Label
Ascorbic Acid
Placebo
Arm Description
Outcomes
Primary Outcome Measures
Mean change in the CMT Neuropathy Scale following high dose ascorbic acid ingestion, assessed at baseline and every 6 months throughout the trial.
Secondary Outcome Measures
Evaluation of PMP22 mRNA levels of myelinated peripheral nerve fibers.
Full Information
NCT ID
NCT00484510
First Posted
June 8, 2007
Last Updated
March 4, 2013
Sponsor
Wayne State University
Collaborators
Muscular Dystrophy Association, Charcot-Marie-Tooth Association
1. Study Identification
Unique Protocol Identification Number
NCT00484510
Brief Title
High Dose Ascorbic Acid Treatment of CMT1A
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.
Study Type
Interventional
2. Study Status
Record Verification Date
March 2013
Overall Recruitment Status
Completed
Study Start Date
April 2007 (undefined)
Primary Completion Date
December 2012 (Actual)
Study Completion Date
December 2012 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Wayne State University
Collaborators
Muscular Dystrophy Association, Charcot-Marie-Tooth Association
4. Oversight
Data Monitoring Committee
Yes
5. Study Description
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 Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Charcot-Marie-Tooth Disease, Type Ia
Keywords
Ascorbic Acid, Vitamin C, Charcot Marie Tooth, CMT, CMT1a
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 2, Phase 3
Interventional Study Model
Parallel Assignment
Masking
ParticipantCare ProviderInvestigator
Allocation
Randomized
Enrollment
110 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Ascorbic Acid
Arm Type
Experimental
Arm Title
Placebo
Arm Type
Placebo Comparator
Intervention Type
Drug
Intervention Name(s)
Ascorbic acid (Vitamin C)
Intervention Description
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).
Intervention Type
Drug
Intervention Name(s)
placebo
Intervention Description
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 Outcome Measure Information:
Title
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 Outcome Measure Information:
Title
Evaluation of PMP22 mRNA levels of myelinated peripheral nerve fibers.
Time Frame
Baseline and Month 24.
10. Eligibility
Sex
All
Minimum Age & Unit of Time
13 Years
Maximum Age & Unit of Time
70 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Richard A Lewis, MD
Organizational Affiliation
Wayne State University, Dept. of Neurology
Official's Role
Principal Investigator
Facility Information:
Facility Name
Johns Hopkins University, Dept of Neurology
City
Baltimore
State/Province
Maryland
ZIP/Postal Code
21287
Country
United States
Facility Name
Wayne State University, Dept of Neurology
City
Detroit
State/Province
Michigan
ZIP/Postal Code
48201
Country
United States
Facility Name
University of Rochester Medical Center, Dept of Neurology
City
Rochester
State/Province
New York
ZIP/Postal Code
14642
Country
United States
12. IPD Sharing Statement
Citations:
PubMed Identifier
23797954
Citation
Lewis RA, McDermott MP, Herrmann DN, Hoke A, Clawson LL, Siskind C, Feely SM, Miller LJ, Barohn RJ, Smith P, Luebbe E, Wu X, Shy ME; Muscle Study Group. High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. JAMA Neurol. 2013 Aug;70(8):981-7. doi: 10.1001/jamaneurol.2013.3178.
Results Reference
derived
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High Dose Ascorbic Acid Treatment of CMT1A
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