Myotonic Dystrophy Research

At the Myotonic Dystrophy Foundation (MDF), we recognize the profound impact that myotonic dystrophy (DM) has on individuals and their families. We understand that DM presents unique challenges that demand equally unique solutions. It is with this understanding that we have dedicated ourselves to advancing research and therapies and, ultimately, a cure.

We believe that to make meaningful strides in DM research and therapy development, we must embrace a holistic strategy that encompasses various facets of the disease, from understanding its genetic underpinnings to enhancing clinical care and advocating for those affected. Our dedication extends to fostering talent through initiatives like the Research Fellows Program, which nurtures the next generation of DM researchers and empowers them to drive innovation.

MDF executed a $5 million, 3-year drug development acceleration effort to attract more industry investment, lower barriers to therapy development, and expand the amount of data available to drive discovery. We fund clinical trial infrastructure projects and other key research, and maintain one of the largest DM patient registries in the world.

We’ve worked with the U.S. Social Security Administration to improve access to disability benefits for people living with DM and had congenital DM classified under its Compassionate Allowance program.

MDF successfully advocates for additional DM funding at several federal agencies and works with regulatory agencies to optimize the drug review approval process.

But our commitment doesn't stop at research alone. We understand that individuals living with DM need support and resources to improve their daily lives. We are passionate about providing these resources and advocating for the highest quality of care for DM patients. We have developed the first-ever international clinical care recommendations for DM1, DM2, congenital DM, cardiology, and pulmonology. We envision a future where the burden of DM is lightened, where treatments are effective, and where a cure is within reach.

Our commitment to advancing research and therapies for DM is part of our promise to the DM community. We are focused on the pursuit of a brighter future for individuals and families affected by DM, and we are dedicated to our mission to accelerate the development of treatments and work toward a cure.

Click here to learn about recipients of research grants and their innovative DM research.

Click here to read the latest medical and research articles in the News and Updates section on the website.

Help Our Researchers through Registering

The Myotonic Dystrophy Family Registry (MDFR) helps academic, biotech, pharma and other researchers to develop new, effective treatments for myotonic dystrophy. When you join the Registry, researchers and other professionals can access de-identified aggregate data to identify target populations for study planning or recruitment for research studies and clinical trials.

Registering your profile also provides access to explore the database and use the Registry’s data analysis and report capabilities to learn more about DM and the community of people living with it. Click here to go to the Registry website, learn more and sign up.