Status:
COMPLETED
Characteristics of Nondystrophic Myotonias
Lead Sponsor:
Richard Barohn, MD
Collaborating Sponsors:
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
Conditions:
Nondystrophic Myotonias
Myotonia Congenita
Eligibility:
All Genders
6+ years
Brief Summary
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 pai...
Detailed Description
Nondystrophic myotonias are muscle disorders caused by abnormal muscle cell membrane proteins that affect the control of muscle fiber contraction. These disorders are extremely rare, and little is kno...
Eligibility Criteria
Inclusion
- 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)
Exclusion
- Any other neurologic condition that might affect the assessment of the study measurements
Key Trial Info
Start Date :
February 1 2006
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
September 1 2012
Estimated Enrollment :
94 Patients enrolled
Trial Details
Trial ID
NCT00244413
Start Date
February 1 2006
End Date
September 1 2012
Last Update
March 6 2013
Active Locations (6)
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1
University of Kansas Medical Center, Department of Neurology
Kansas City, Kansas, United States, 66160
2
Brigham & Women's Hospital, Department of Neurology
Boston, Massachusetts, United States, 02115
3
University of Rochester School of Medicine and Dentistry, Department of Neurology
Rochester, New York, United States, 14642
4
University of Texas Southwestern Medical Center
Dallas, Texas, United States, 75390-9036