Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1

Condition(s) targeted: Myotonic Dystrophy

Intervention: Mexiletine (Drug); Placebo (Drug)

Phase: Phase 2

Status: Recruiting

Sponsored by: University of Rochester

Official(s) and/or principal investigator(s):
Richard T. Moxley, III, MD, Principal Investigator, Affiliation: University of Rochester

Overall contact:
Liz Luebbe, Phone: 585-275-7867, Email: elizabeth_luebbe@urmc.rochester.edu

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).

Official title: A Randomized, Placebo Controlled, Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type-1 (DM1)

Study design: Allocation: Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Parallel Assignment, Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor), Primary Purpose: Treatment

Primary outcome: Ambulation

Secondary outcome:

The Number of Study Participants Who Safely Tolerated mexiletine

Myotonia

Muscle function and strength

Cardiac conduction

Quality of Life

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.

Minimum age: 18 Years. Maximum age: 80 Years. Gender(s): Both.

Criteria:

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

Liz Luebbe, Phone: 585-275-7867, Email: elizabeth_luebbe@urmc.rochester.edu

University of Rochester Medical Center, Department of Neurology, Rochester, New York 14642, United States; Recruiting
Liz Luebbe, Phone: 585-275-7867, Email: elizabeth_luebbe@urmc.rochester.edu
Richard T. Moxley, III, MD, Principal Investigator
Chad Heatwole, MD, Sub-Investigator
Eric Logigian, MD, Sub-Investigator
Charles Thornton, MD, Sub-Investigator

Related publications:

Logigian EL, Martens WB, Moxley RT 4th, McDermott MP, Dilek N, Wiegner AW, Pearson AT, Barbieri CA, Annis CL, Thornton CA, Moxley RT 3rd. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology. 2010 May 4;74(18):1441-8.

Moxley RT 3rd, Logigian EL, Martens WB, Annis CL, Pandya S, Moxley RT 4th, Barbieri CA, Dilek N, Wiegner AW, Thornton CA. Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1). Muscle Nerve. 2007 Sep;36(3):320-8.

Starting date: June 2011
Last updated: January 31, 2013