Clinical trial NCT01406873: Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1
Official title: A Randomized, Placebo Controlled, Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type-1 (DM1)
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE2
Conditions: Myotonic Dystrophy
Keywords: Myotonic Dystrophy
Myotonic Dystrophy Type 1 (DM1)
Muscular Dystrophy
Mexiletine
Lead sponsor: University of Rochester
Sponsor class: OTHER
First posted: 2011-08-01
Enrollment: 42
Sex: ALL
Minimum age (years): 18
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: TREATMENT

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).

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.

Eligibility 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

Primary outcomes:
measure: Mean Change From Baseline in Ambulation Using the 6 Minute Walk Distance
timeFrame: Baseline to 6 months
Secondary outcomes:
measure: Percentage of Participants That Had a Dose Reduction or a Study Drug Withdrawal or Suspension Over 6 Months
timeFrame: 6 months
measure: Mean Change From Baseline in Quantitative Measure of Hand Grip Myotonia
timeFrame: Baseline to 6 months
measure: Mean Change From Baseline in Manual Muscle Testing (MMT) Score
timeFrame: Baseline to 6 months
measure: Mean Change From Baseline in PR, QRS, and QTc Intervals, and Average Minimum Heart Rate (HR) Via Electrocardiogram (ECG) Monitoring
timeFrame: Baseline to 6 Months
measure: Mean Change From Baseline in Patient-Reported Disease Burden and Quality of Life
timeFrame: Baseline to 6 months
Other outcomes:
Locations:
city: Rochester
country: United States
facility: University of Rochester Medical Center, Department of Neurology
state: New York
Study officials:
affiliation: University of Rochester
name: Richard T. Moxley, III, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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. doi: 10.1212/WNL.0b013e3181dc1a3a.
citation: 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. doi: 10.1002/mus.20822.