- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00244413
Characteristics of Nondystrophic Myotonias
Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study
Study Overview
Status
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 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.
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
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Ontario
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London, Ontario, Canada
- London Health Sciences Centre, University Hospital
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London, United Kingdom, WC1N 3BG
- Center for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology
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Kansas
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Kansas City, Kansas, United States, 66160
- University of Kansas Medical Center, Department of Neurology
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Massachusetts
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Boston, Massachusetts, United States, 02115
- Brigham & Women's Hospital, Department of Neurology
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New York
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Rochester, New York, United States, 14642
- University of Rochester School of Medicine and Dentistry, Department of Neurology
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Texas
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Dallas, Texas, United States, 75390-9036
- University of Texas Southwestern Medical Center
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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
Study Plan
How is the study designed?
Design Details
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
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Examine the frequency applicable events related to Nondystrophic Myotonia
Time Frame: Baseline - 3 yrs
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We will measure by an interactive voice response to measure stiffness, pain, weakness, and fatigue.
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Baseline - 3 yrs
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Collaborators and Investigators
Sponsor
Publications and helpful links
General Publications
- Torbergsen T, Hodnebo A, Brautaset NJ, Loseth S, Stalberg E. A rare form of painful nondystrophic myotonia. Clin Neurophysiol. 2003 Dec;114(12):2347-54. doi: 10.1016/s1388-2457(03)00275-x.
- Renner DR, Ptacek LJ. Periodic paralyses and nondystrophic myotonias. Adv Neurol. 2002;88:235-52. No abstract available.
- Cannon SC. Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. Kidney Int. 2000 Mar;57(3):772-9. doi: 10.1046/j.1523-1755.2000.00914.x.
- Cannon SC. From mutation to myotonia in sodium channel disorders. Neuromuscul Disord. 1997 Jun;7(4):241-9. doi: 10.1016/s0960-8966(97)00430-6.
- Moxley RT 3rd. The myotonias: their diagnosis and treatment. Compr Ther. 1996 Jan;22(1):8-21. No abstract available.
- Brown RH Jr. Ion channel mutations in periodic paralysis and related myotonic diseases. Ann N Y Acad Sci. 1993 Dec 20;707:305-16. doi: 10.1111/j.1749-6632.1993.tb38061.x. No abstract available.
Study record dates
Study Major Dates
Study Start
Primary Completion (ACTUAL)
Study Completion (ACTUAL)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (ESTIMATE)
Study Record Updates
Last Update Posted (ESTIMATE)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 10263
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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