The Myotonic Dystrophy Clinical Research Network (DMCRN) sites are currently conducting a critically-important research study designed to help drug developers successfully design clinical trials and understand how to assess the efficacy of potential therapies. The research study, entitled, “Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type-1 (END-DM1)", is being conducted at 17 sites around the world. Researchers are trying to learn more about what causes the muscle weakness and stiffness (myotonia) in myotonic dystrophy. This study will enroll 700 people, ages 18-70, with myotonic dystrophy type 1 who are willing to travel, up to 4 times, to one of the centers below and complete the study requirements. Subjects may be asked if they would like to participate in the muscle biopsy sub-based on the study team’s assessment.
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. There is no cost to you to participate.
Enrolled subjects will be asked to undergo the following procedures at each visit:
- 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, from the opposite leg, next to the shin (tibialis anterior).
Additional follow-up visits will be at month 3 (if you provided a muscle biopsy), month 12 and month 24.
Ready to Participate?
If you are interested in this project, please contact one of the study coordinators listed below or Jeanne Dekdebrun at Jeanne_Dekdebrun@urmc.rochester.edu or Jessica St. Romain at Mary.StRomain@vcuhealth.org.
- Kansas City, Kansas: Katie Roath, firstname.lastname@example.org / 913-945-9928
- Rochester, New York: Jeanne Dekdebrun, email@example.com / 585-276-4611
- Richmond, Virginia: Jodie Howell, Jodie.Howell@vcuhealth.org / 804-628-6480
- Houston, Texas: Isaiah Carter, firstname.lastname@example.org / 713-441-5192
- Stanford, California: Lesly Welsh, email@example.com / 650-497-3079
- Columbus, Ohio: Alison Sankey, Alison.Sankey@osumc.edu / 614-688-7812
- Gainesville, Florida: Jaime Bolling, Jamie.Bolling@neurology.ufl.edu / (352) 733-2432
- Iowa City, Iowa: Nicole Kressin, firstname.lastname@example.org / 319-678-8596
- Bethesda, Maryland: Vanessa Ndege, 301-435-9319
- Paris, France: Guillaume Bassez, MD, email@example.com
- Milan, Italy: Luca Mauro, firstname.lastname@example.org / +39 02 91433264
- Nijmegen, Netherlands: Baziel vanEngelen, MD, email@example.com / (024) 366 8374
- München, Germany: Stephan Wenninger, Stephan.Wenninger@med.uni-muenchen.de
- London, United Kingdom: Chris Turner, PhD, firstname.lastname@example.org
- Los Angeles, California: Jennifer Huynh, JenniferH@mednet.ucla.edu / (310) 825-3264
- Aurora, Colorado: Brianna Blume, NeurologyResearchPartners@ucdenver.edu / 303-724-4644
- Auckland, New Zealand: Miriam Rodrigues, MRodrigues@adhb.govt.nz / 021896662