Characteristics of Nondystrophic Myotonias

Myotonia Congenita Clinical Trial

Official title:

Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00244413
• Other study ID #: 10263
• Status: Completed
• Phase: N/A
• First received: October 24, 2005
• Last updated: March 5, 2013
• Start date: February 2006
• Est. completion date: September 2012

Study information

• Verified date: March 2013
• Source: University of Kansas Medical Center
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Observational

Clinical Trial 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 pain, weakness, and impaired physical activity. The purpose of this study is to better characterize the clinical features and symptoms of NDM.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 94
• Est. completion date: September 2012
• Est. primary completion date: September 2012
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 6 Years and older

Eligibility

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 Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Myotonia
• Myotonia Congenita
• Myotonic Disorders
• Nondystrophic Myotonias

Locations

Country	Name	City	State
Canada	London Health Sciences Centre, University Hospital	London	Ontario
United Kingdom	Center for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology	London
United States	Brigham & Women's Hospital, Department of Neurology	Boston	Massachusetts
United States	University of Texas Southwestern Medical Center	Dallas	Texas
United States	University of Kansas Medical Center, Department of Neurology	Kansas City	Kansas
United States	University of Rochester School of Medicine and Dentistry, Department of Neurology	Rochester	New York

Sponsors (3)

Lead Sponsor	Collaborator
Richard Barohn, MD	Office of Rare Diseases (ORD), Rare Diseases Clinical Research Network

Countries where clinical trial is conducted

United States,  Canada,  United Kingdom, 

References & Publications (6)

Brown RH Jr. Ion channel mutations in periodic paralysis and related myotonic diseases. Ann N Y Acad Sci. 1993 Dec 20;707:305-16. Review. — View Citation

Cannon SC. From mutation to myotonia in sodium channel disorders. Neuromuscul Disord. 1997 Jun;7(4):241-9. Review. — View Citation

Cannon SC. Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. Kidney Int. 2000 Mar;57(3):772-9. Review. — View Citation

Moxley RT 3rd. The myotonias: their diagnosis and treatment. Compr Ther. 1996 Jan;22(1):8-21. Review. — View Citation

Renner DR, Ptácek LJ. Periodic paralyses and nondystrophic myotonias. Adv Neurol. 2002;88:235-52. Review. — View Citation

Torbergsen T, Hødnebø A, Brautaset NJ, Løseth S, Stålberg E. A rare form of painful nondystrophic myotonia. Clin Neurophysiol. 2003 Dec;114(12):2347-54. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Examine the frequency applicable events related to Nondystrophic Myotonia	We will measure by an interactive voice response to measure stiffness, pain, weakness, and fatigue.	Baseline - 3 yrs	No