Characteristics of Nondystrophic Myotonias
Completed
Conditions studied: Nondystrophic Myotonias, Myotonia Congenita, Myotonic Disorders
In brief
Nondystrophic myotonias (NDM) are muscle disorders caused by genetic abnormalities in certain muscle cell membrane proteins. Individuals with NDM experience limited muscle relaxation, which causes pain, weakness, and impaired physical activity. The purpose of this study is to better characterize the clinical features and symptoms of NDM.
Key facts
- Study ID
- NCT00244413
- Run by
- Richard Barohn, MD
- People needed
- 94
- Starts
- 2006-02-01
- Expected to finish
- 2012-09-01
- Last updated by the study team
- 2013-03-06
Who can join
Age: 6 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Clinical symptoms or signs suggestive of myotonia
- Presence of myotonic potentials on electromyography (EMG)
- Persistence of symptoms and signs after discontinuation of medications that produce myotonia; such medications include fibric acid derivatives, hydroxymethylglutaryl CoA reductase inhibitors, chloroquine, and colchicine
- Absence of features suggestive of myotonic dystrophy, including ptosis, temporal wasting, mandibular weakness, cataracts occurring before age 50, and evidence of multisystem defects (cardiac conduction defects, hypogonadism)
You may not qualify if…
- Any other neurologic condition that might affect the assessment of the study measurements
Where it is running
- University of Kansas Medical Center, Department of Neurology — Kansas City, Kansas, United States
- Brigham & Women's Hospital, Department of Neurology — Boston, Massachusetts, United States
- University of Rochester School of Medicine and Dentistry, Department of Neurology — Rochester, New York, United States
- University of Texas Southwestern Medical Center — Dallas, Texas, United States
- London Health Sciences Centre, University Hospital — London, Ontario, Canada
- Center for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology — London, United Kingdom
Full record on ClinicalTrials.gov
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