Characteristics of Nondystrophic Myotonias

March 5, 2013 updated by: Richard Barohn, MD

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.

Study Overview

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

Observational

Enrollment (Actual)

94

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

    • Ontario
      • London, Ontario, Canada
        • London Health Sciences Centre, University Hospital
      • London, United Kingdom, WC1N 3BG
        • Center for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology
    • Kansas
      • Kansas City, Kansas, United States, 66160
        • University of Kansas Medical Center, Department of Neurology
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Brigham & Women's Hospital, Department of Neurology
    • New York
      • Rochester, New York, United States, 14642
        • University of Rochester School of Medicine and Dentistry, Department of Neurology
    • Texas
      • Dallas, Texas, United States, 75390-9036
        • University of Texas Southwestern Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

6 years and older (ADULT, OLDER_ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Individuals with nondystrophic myotonia

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Baseline - 3 yrs

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

February 1, 2006

Primary Completion (ACTUAL)

September 1, 2012

Study Completion (ACTUAL)

September 1, 2012

Study Registration Dates

First Submitted

October 24, 2005

First Submitted That Met QC Criteria

October 24, 2005

First Posted (ESTIMATE)

October 26, 2005

Study Record Updates

Last Update Posted (ESTIMATE)

March 6, 2013

Last Update Submitted That Met QC Criteria

March 5, 2013

Last Verified

March 1, 2013

More Information

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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