CINCH Logo  
Take Action
What is CINCH?

Learn More

Research Studies

Advocacy Groups and Information

Information for

News & Events

Participating Clinical

Contact Information


Clinical Studies

5303: Non-dystrophic Myotonias: Genotype-Phenotype Correlation and Longitudinal Study

Status: Not recruiting at this time


Please Note: We will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

The nondystrophic myotonias (NDM) are a very rare group of muscle disorders caused by abnormalities in different muscle cell membrane proteins. Patients experience impaired muscle relaxation that causes impaired physical activity, pain, and weakness. There are no proven therapies for NDM and it is not known if treatment should differ for different NDM subtypes. This study will address these questions by collecting standardized data from NDM patients, to include clinical symptoms, exam findings, as well as the results of strength, functional, and electrophysiological testing. Genetic testing will permit precise identification of individual NDM subtypes. This information will allow for the identification and implementation of appropriate endpoints in studies of potential treatments.

Target Enrollment:

Expected total enrollment is 100 participants, ages 6 years and above, with clinical symptoms or signs suggestive of myotonic disorders, presence of myotonic potentials on electromyography (EMG), persistence of symptoms and signs after discontinuation of medications that produce myotonia, and absence of features suggestive of myotonic dystrophy.

Participating Institutions:

  • University of Kansas Medical Center, Kansas City, KS
  • University of Rochester, Rochester, NY
  • Institute of Neurology & National Hospital for
    London, UK
  • Harvard/Brigham and Women's Hopstial, Boston, MA
  • University of Texas Southwestern, Dallas, TX
  • London Health Sciences Centre, London, Ontario, CANADA

How to Participate:

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

Laura Herbelin, BS
University of Kansas Medical Center
Department of Neurology
3599 Rainbow Blvd.
Kansas City, KS 66160
Phone: 913-588-5095