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Characteristics of Nondystrophic Myotonias

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00244413
Recruitment Status : Completed
First Posted : October 26, 2005
Last Update Posted : March 6, 2013
Information provided by (Responsible Party):

October 24, 2005
October 26, 2005
March 6, 2013
February 2006
September 2012   (Final data collection date for primary outcome measure)
Examine the frequency applicable events related to Nondystrophic Myotonia [ Time Frame: Baseline - 3 yrs ]
We will measure by an interactive voice response to measure stiffness, pain, weakness, and fatigue.
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Complete list of historical versions of study NCT00244413 on ClinicalTrials.gov Archive Site
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Characteristics of Nondystrophic Myotonias
Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study
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.

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 known about how to best treat the various subtypes of NDM. The purpose of this study is to characterize the clinical features and symptoms of NDM as well as to pair this data with specific NDM subtypes. In turn, this may lead to the development of improved treatments. The study will also establish clinical endpoints for use in future studies.

This multi-center observational study will involve both a cross-sectional data analysis and a prospective longitudinal analysis. Participants will initially attend a one-day outpatient study visit. Various baseline measurements will be collected, including demographics, medical history, and quality of life measures. Blood samples will be taken to evaluate laboratory values and genetic factors. Participants will undergo manual muscle testing (MMT), clinical myotonia assessments, and functional movement assessments. Routine nerve conduction studies and electromyography (EMG) will also be performed in order to test for the presence of myotonia in specific muscles. Annual follow-up evaluations will occur 1 and 2 years following the first study visit.

Observational Model: Cohort
Time Perspective: Prospective
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Retention:   Samples With DNA
Blood samples
Non-Probability Sample
Individuals with nondystrophic myotonia
  • Nondystrophic Myotonias
  • Myotonia Congenita
  • Myotonic Disorders
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
September 2012
September 2012   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • 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 Criteria:

  • Any other neurologic condition that might affect the assessment of the study measurements
Sexes Eligible for Study: All
6 Years and older   (Child, Adult, Senior)
Contact information is only displayed when the study is recruiting subjects
Canada,   United Kingdom,   United States
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Richard Barohn, MD, University of Kansas Medical Center Research Institute
Richard Barohn, MD
  • Office of Rare Diseases (ORD)
  • Rare Diseases Clinical Research Network
Principal Investigator: Richard Barohn, MD University of Kansas Medical Center
University of Kansas Medical Center
March 2013