Study Recruiting People with LGMD2B or Miyoshi Myopathy

Investigators will determine how best to measure and track symptoms of dysferlin deficiency, with the goal of defining outcome measures for use in clinical trials

Mutations in the dysferlin gene can lead to different groups of symptoms. Researchers want to determine the usual physical and biochemical progression of dysferlinopathies so that clinical trials can be conducted in the future.
Article Highlights:
  • Dysferlinopathies, or dysferlin deficiency disorders, include type 2B limb-girdle muscular dystrophy and Miyoshi myopathy.
  • Dysferlinopathies are due to mutations in the dysferlin gene, which cause deficiency of the dysferlin protein in muscles.
  • The study is seeking people with dysferlinopathies to participate in order to learn how these disorders normally progress and how best to measure them. Funding for travel and diagnostic testing is available.
by Margaret Wahl on September 25, 2012 - 10:15am

A new, multinational study of type 2B limb-girdle muscular dystrophy (LGMD2B) and Miyoshi myopathy — both of which result from mutations in the gene for the muscle protein dysferlin and are known as dysferlinopathies or dysferlin deficiency — is inviting people with either disorder to participate.

This International Clinical Outcome Study for Dysferlinopathy seeks to:

  • define the best tests for measuring changes in LGMD2B or Miyoshi myopathy as it progresses, with the goal of using these tests — called outcome measures — in future clinical trials of experimental treatments;
  • collect biological samples for the identification of biomarkers that will allow noninvasive monitoring of changes in either disease during clinical trials; and
  • collect accurate details about all the different forms of dysferlinopathy by measuring disease progression in a large group of people, with the goal of enhancing patient care.

The study, funded by the Jain Foundation, is being conducted at 14 centers in the United States, Europe, Japan and Australia. U.S. study sites are in Washington, D.C., St. Louis, Mo., Columbus, Ohio, and Charlotte, N.C.

You do not need to live near a study center, as funds are available for participants and a helper to travel to the nearest site.

If you are not sure whether you have a dysferlinopathy (LGMD2B or Miyoshi myopathy), funds are available to conduct the necessary tests to find out. Contact Esther Hwang, director of patient relations and diagnostics at the Jain Foundation in Bellevue, Wash., at ehwang@jain-foundation.org or (425) 882-1440.

Prospective participants must:

  • be at least 10 years old;
  • have a confirmed diagnosis of a dysferlinopathy, either by the identification of two dysferlin mutations or by the identification of one dysferlin mutation together with the determination of dysferlin protein levels in the disease range;
  • be willing and able to travel to the nearest study center for necessary visits; and
  • be willing and able to undergo medical, physical and imaging (MRI/MRS) assessments on six occasions over three years.

Recruitment begins in September 2012 and will continue until Aug. 31, 2013.

For more information, see International Clinical Outcome Study for Dysferlinopathy (LGMD2B/Miyoshi), or send an email to contact@dysferlinoutcomestudy.org.

 

About Clinical Trials

About Clinical Trials

A clinical trial is a test, in humans, of an experimental treatment. Although it's possible that benefit may be derived from participating in a clinical trial, it's also possible that no benefit, or even harm, may occur.

MDA has no ability to influence who is chosen to participate in a clinical trial.

To learn more, see Learn About Clinical Studies and Being a Co-Adventurer, which is about neuromuscular disease clinical trials. To see a continuously updated database of clinical trials, go to ClinicalTrials.gov.

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