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Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)

Purpose

This study aims to help drug developers successfully design clinical trials and understand how to assess the efficacy of potential therapies. Researchers are trying to learn more about what causes the muscle weakness and stiffness (myotonia) in myotonic dystrophy.

The information collected in this study will help scientists design new treatments for myotonic dystrophy, find the best way to measure whether myotonic dystrophy is getting better or worse, and determine how it changes over time.

Procedures

Enrolled subjects will be asked to undergo the following procedures at each visit:

Additional follow-up visits will be at month 3 (if you provided a muscle biopsy), month 12 and month 24.

  • Physical examination
  • Electrocardiogram (EKG)
  • Muscle strength and myotonia testing
  • Some patients will need to have a needle muscle biopsy to obtain a small amount of muscle tissue (smaller than a pea)
  • Provide blood samples
  • Complete a set of questionnaires
  • Complete cognitive testing
  • If you are selected for the muscle biopsy sub-study, the first biopsy will be obtained from the lower leg, next to the shin (tibialis anterior muscle). The second biopsy will be obtained 3 months later, either from the opposite leg, next to the shin (tibialis anterior) or the upper arm (biceps).

For more details about the data collected in this study, please contact Rebecca Zelmanovich:

Eligibility 

  • 18 - 70 years old
  • Myotonic dystrophy type 1

For more details about eligibility criteria, please contact Rebecca Zelmanovich:

Age

18 to 65
65 and over

Gender

Male
Female

Can be done from home

No

Keywords

Muscular dystrophy, Muscular dystrophy - resources, Neurology

Principal Investigator

S.H. Subramony, MD

Department

Neurology

Contact Information

Victoria.Hope@neurology.ufl.edu

352-733-2436

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