Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
94 participants
OBSERVATIONAL
2006-02-28
2012-09-30
Brief Summary
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Detailed Description
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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.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Eligibility Criteria
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Inclusion Criteria
* 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
6 Years
ALL
No
Sponsors
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Office of Rare Diseases (ORD)
NIH
Rare Diseases Clinical Research Network
NETWORK
Richard Barohn, MD
OTHER
Responsible Party
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Richard Barohn, MD
Gertrude and Dewey Zeigler Professor of Neurology and Chair
Principal Investigators
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Richard Barohn, MD
Role: PRINCIPAL_INVESTIGATOR
University of Kansas Medical Center
Locations
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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
Countries
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References
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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.
Other Identifiers
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10263
Identifier Type: -
Identifier Source: org_study_id
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