Myotonic Dystrophy Clinical Research Network

In 2012, Myotonic announced a joint sponsorship of a collaborative effort led by Dr. Charles Thornton of the University of Rochester Medical Center to launch the Myotonic Dystrophy Clinical Research Network (DMCRN). Initially, the centers are responsible for establishing infrastructure to develop the methods of measuring disease progression and establishing clinical outcome markers to document the efficacy of treatment. The DMCRN also forms the basis of centers for research studies and clinical trials.

DMCRN Members

The DMCRN is comprised of six medical centers with significant proficiency in myotonic dystrophy clinical care and research. The current DMCRN sites are:

  1. University of Florida McKnight Brain Institute - Dr. S. Subramony,  Primary Investigator

  2. University of Kansas Medical Center Research Institute - Dr. Richard Barohn, Primary Investigator

  3. Ohio State University Medical Center, Dr. John Kissel - Primary Investigator

  4. Stanford University School of Medicine, Dr. John Day - Primary Investigator

  5. University of Rochester - Drs. Richard Moxley and Charles Thornton, DMCRN Primary Investigator

  6. National Institutes of Health - Dr. Ami Mankodi, Primary Investigator

The University of Rochester is the lead DMCRN site, with Dr. Charles Thornton as the DMCRN PI. Data from the DMCRN studies are processed in the Data Management Center at Rochester, as is analysis of tissue and blood samples from the current DMCRN study. While Dr. Thornton and the University of Rochester initiated the current DMCRN research study, future studies may originate from any of the sites. Other DMCRN sites may be added in the future.

Why We Need the Network

Testing a new drug involves a series of studies, called clinical trials, that are designed to answer several key questions:

  • Does the drug have a beneficial effect? If not, why not?

  • What benefits can the drug provide and what are the potential side effects?

  • If the drug is effective, what is the best dose? How long does it last? When should it be started?

To answer these questions we need reliable testing procedures with proven accuracy, and a group of research sites to monitor the treatment and carry out the measurements. The testing procedures must be carefully selected and standardized, and the teams at each site should have extensive experience using the procedures to ensure that test results are consistent. The Clinical Research Network is focused on making this happen.

Goals of the DMCRN

  1. To develop research teams at each site, with team members who are committed to myotonic dystrophy and experience with the research procedures.

  2. To learn more about DM - there is still much we don't know. For example, researchers do not have a detailed understanding of why myotonic dystrophy is so variable from person to person, what controls the size of the repeat expansion, or what exactly leads to the muscle weakness, gastrointestinal symptoms, or central nervous system effects.  Answering these questions will help researchers undestand how people respond to therapies and may lead to the design of new targeted treatments.

  3. To collect additional data needed for clinical trials, including:

  •  ​Outcome measures (how the success of a trial will be measured)

  • Disease progression (how and why DM becomes more severe over time)

  • Biomarkers (something in a cell or body tissue that can help indicate the presence of a disease like DM, and help measure changes in that disease due to the effects of a drug)

  • Endpoints (outcomes of drug treatment that demonstrate whether a drug is effective, e.g. improved strength, interrupted disease progression, etc.)

A major focus in setting up the DMCRN was making sure that all researchers in the Network would have free and unrestricted access to the data collected through DMCRN studies, and that they would all be able to publish the results of these studies. In addition, DMCRN stakeholders committed to making access to study results available to researchers across the US and the world, in both the academic sector and in industry. The objective with these Network design decisions was to help lower barriers to advancing DM science and research, and continue the remarkably collaborative and friendly research environment that has been a hallmark of the DM research community to date.

DMCRN Funding

DMCRN financial support has come from a broad consortium of stakeholders in the DM community. These include Myotonic, along with other patient advocacy organizations such as the Marigold Foundation and the Muscular Dystrophy Association; the National Institutes of Health (NIH) through their support of the Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center in Rochester; and industry, through support from pharmaceutical company Biogen Idec.

What's Next

The DMCRN is moving forward quickly, and meeting the interim goals established for the first 3-5 years. Equally hopeful, the drug development pipeline continues to grow with additional pharmaceutical companies engaging in DM treatment development. The establishment of the DMCRN and other infrastructure projects like the Myotonic Dystrophy Family Registry, the University of Rochester FSHD and DM Registry, and DM biobanks are demonstrating to pharmaceutical and biotech companies that myotonic dystrophy is a good bet for drug development. Overall, DMCRN members are very pleased with the progress they have achieved with the Network. In the words of DMCRN Primary Investigator Dr. Charles Thornton, "The pieces are falling into place, and we hope that the DMCRN will prove to be a historic partnership of industry, advocacy groups, academic researchers and government to develop a truly effective treatment for myotonic dystrophy."