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Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1

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ClinicalTrials.gov Identifier: NCT01406873
Recruitment Status : Completed
First Posted : August 1, 2011
Last Update Posted : August 21, 2017
Information provided by (Responsible Party):
Chad Heatwole, University of Rochester

Brief Summary:
The purpose of this study is to investigate the effects of mexiletine treatment for 6 months on ambulation, myotonia, muscle function and strength, pain, gastrointestinal functioning, cardiac conduction, and quality of life in myotonic dystrophy type 1 (DM1).

Condition or disease Intervention/treatment Phase
Myotonic Dystrophy Drug: Mexiletine Drug: Placebo Phase 2

Detailed Description:

This study will provide data on the long term (6 months) safety and efficacy of mexiletine in:

  • improving the distance participants are able to walk in six minutes;
  • reducing myotonia;
  • improving muscle strength;
  • increasing lean muscle mass;
  • decreasing musculoskeletal pain;
  • improving gastrointestinal function and swallowing);
  • improving functional abilities;
  • decreasing cardiac arrhythmias; and
  • improving disease-specific health related quality-of-life.

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 42 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Primary Purpose: Treatment
Official Title: A Randomized, Placebo Controlled, Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type-1 (DM1)
Study Start Date : June 2011
Primary Completion Date : February 2017
Study Completion Date : March 2017

Arm Intervention/treatment
Active Comparator: Mexiletine
20 subjects will be randomized (assigned) to receive Mexiletine. Mexiletine is available on the market for the treatment of cardiac arrhythmias, but it is not currently approved for the treatment of myotonia or myotonic dystrophy.
Drug: Mexiletine
150 mg/kg Mexiletine capsules taken by mouth, three times daily for 6 months
Other Name: Generic name: mexiletine hydrochloride
Placebo Comparator: Sugar pill
20 subjects will be randomized (assigned) to receive placebo (sugar pill). This control group is necessary to definitely establish the antimyotonic efficacy and safety of mexiletine.
Drug: Placebo
150 mg/kg placebo capsules taken by mouth, three times daily for 6 months

Primary Outcome Measures :
  1. Ambulation [ Time Frame: 6 months ]

Secondary Outcome Measures :
  1. The Number of Study Participants Who Safely Tolerated mexiletine [ Time Frame: 6 months ]
    Safety and tolerability are monitored by interval laboratory studies, Holter monitoring, resting echocardiograms, dula energy x-ray absorptiometry (DEXA)studies, and physical examinations. The participants have three in-person evaluations at the University of Rochester Clinical Research Center (Months 0, 3, and 6) and telephone evaluations every 2 weeks. Patients complete side effects diaries to record any adverse events in the interval time between the in-person evaluations.

  2. Myotonia [ Time Frame: 6 months ]
  3. Muscle function and strength [ Time Frame: 6 months ]
  4. Cardiac conduction [ Time Frame: 6 months ]
  5. Quality of Life [ Time Frame: 6 months ]

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Ages Eligible for Study:   18 Years to 80 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • A diagnosis of DM1, confirmed by DM1 genetic mutation
  • Ability to walk 30 feet (assistance with cane and/or leg bracing permitted)
  • Presence of grip myotonia

Exclusion Criteria:

  • Congenital DM1
  • Treatment with Mexiletine within past 8 weeks
  • Second or third degree heart block, atrial flutter, atrial fibrillation, ventricular arrhythmias, or is receiving medication for treatment of a cardiac arrhythmia
  • Receiving another antimyotonia drug
  • Liver or kidney disease requiring ongoing treatment
  • Has a seizure disorder
  • Is pregnant or lactating
  • Had severe depression within 3 months or a history of suicide ideation
  • Has any one of the following medical conditions: uncontrolled diabetes mellitus, congestive heart failure, symptomatic cardiomyopathy, symptomatic coronary artery disease, cancer (other than skin cancer) less than five years previously, multiple sclerosis, or other serious medical illness.
  • Drug or alcohol abuse within 3 months
  • Coexistence of another neuromuscular disease
  • Is unable to give informed consent
  • Severe arthritis or other medical condition (besides DM1) that would significantly impact ambulation

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01406873

United States, New York
University of Rochester Medical Center, Department of Neurology
Rochester, New York, United States, 14642
Sponsors and Collaborators
University of Rochester
Principal Investigator: Richard T. Moxley, III, MD University of Rochester

Responsible Party: Chad Heatwole, Associate Professor of Neurology, University of Rochester
ClinicalTrials.gov Identifier: NCT01406873     History of Changes
Other Study ID Numbers: 3716
Funding Source: FDA/OOPD ( Other Grant/Funding Number: R01FD003716 )
First Posted: August 1, 2011    Key Record Dates
Last Update Posted: August 21, 2017
Last Verified: August 2017

Keywords provided by Chad Heatwole, University of Rochester:
Myotonic Dystrophy
Myotonic Dystrophy Type 1 (DM1)
Muscular Dystrophy

Additional relevant MeSH terms:
Myotonic Dystrophy
Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Myotonic Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Genetic Diseases, Inborn
Anti-Arrhythmia Agents
Voltage-Gated Sodium Channel Blockers
Sodium Channel Blockers
Membrane Transport Modulators
Molecular Mechanisms of Pharmacological Action