MDF 3.0 launched in 2015. This article was updated in August 2026 to reflect the initiative’s long-term impact.
In 2015, the Myotonic Dystrophy Foundation (MDF) launched MDF 3.0, a three-year, multimillion-dollar strategy to accelerate progress in myotonic dystrophy research, clinical care, and drug development. The goals included:
- Strengthen capacity and infrastructure in DM clinical care to drive more accurate clinical trial design, improve capacity to evaluate drug efficacy and advance understanding of disease course
- Deepen and strengthen the research and development bench to drive more myotonic dystrophy discoveries
- Expand the drug development pipeline with additional pharmaceutical partners, additional translational research and more critical data
- Incentivize investment in myotonic dystrophy via key studies, data collection, industry partnerships and a targeted and immediate advocacy effort with federal agencies and legislators
MDF doubled down on building our research portfolio, focusing on making it as efficient and easy as possible for the scientific community to develop and test new drugs for myotonic dystrophy. This process, called “de-risking,” has been aimed squarely at making the numbers work for drug companies that are considering investing in the myotonic dystrophy space. For example, company X has developed an experimental compound that might help build new muscle. The company could test it on elderly people who lose muscle strength as they age, or they could choose to test it in myotonic dystrophy. We want to give them every reason to choose myotonic dystrophy.
The results of the MDF 3.0 investments have been significant, impacting community connection, quality of clinical care, and drug development, including:
Clinical Care Considerations
With no standards of care for treatment of myotonic dystrophy, patients and family members found themselves educating their physicians with regard to symptoms and treatment options. The lack of standardized care protocols made it difficult to track the impact of potential therapies in trials more difficult, since it can be unclear what impacts to attribute to the therapy and what is due to differences in individual participants’ care and disease course.
MDF, members of our Scientific Advisory Board, the Centers for Disease Control, and others partnered to create consensus-based Clinical Care Considerations that are now used by doctors around the world, pharmaceutical companies, and federal regulators reviewing potential therapies for approval until more rigorous and comprehensive therapy-specific Practice Parameters are developed.
View a clinical overview and DM-specific resources for healthcare providers.
Expanded Fellows Award Program
To attract and retain high quality young investigators, drive retention at clinical care and research sites, support senior DM investigators and their labs and improve the quality of care delivered to people living with DM, MDF expanded the Research Fellowship program to include pre-doctoral students, clinical fellows, and fellows identified by senior research leadership.
Learn more about MDF’s Research Grants and Fellowships.
DM Prevalence Study
MDF funded a prevalence study to determine not just the number of people who have been officially diagnosed with myotonic dystrophy, but how common the expanded repeat mutation is in the general population. The study found that myotonic dystrophy is more common than previously assumed – 1 in 2,100 instead of the 1 in 8,000 or 10,000 – in part because it often takes up to a decade for people to receive an official diagnosis. This means that the burden associated with the disease is also higher. This information was a critical component to making the case for pharmaceutical company investment, insurance reimbursement, and for policy making that affects the myotonic dystrophy community. Accurate prevalence statistics have incentivized drug companies to enter the space and has strengthened the case for government-funded research.
This study was published in 2021 in Neurology: https://www.neurology.org/doi/10.1212/wnl.0000000000011425
Myotonic Dystrophy Clinical Research Network Expansion
MDF bolstered the capabilities of the Myotonic Dystrophy Clinical Research Network (DMCRN) – a network of clinical sites launched in 2013 that are centrally coordinated to conduct research studies key to informing trial design and disease understanding, and to run multi-site clinical trials and studies for myotonic dystrophy. We did this by expanding the number of network sites and providing the central coordinating center at the University of Rochester with additional resources for oversight and management.
This network has expanded to 21 sits as of 2026, and is now prepared to accommodate the larger clinical trials required to approve a new drug for myotonic dystrophy. It also helps investigators gather data on the normal progression of the disease, which is needed to determine, from a statistical standpoint, how many people should be included in future clinical trials and what types of things we should measure to know if an experimental DM therapeutic is working.
New Research in Biomarkers
In addition to prevalence and burden of disease studies, MDF funded grants to identify “biomarkers,” such as changes in blood or other proteins that would indicate how the disease progresses, and to develop new “endpoints,” or measurements that will demonstrate if an experimental therapeutic is working. An MDF grant to Thurman Wheeler at Harvard/Massachusetts General Hospital established that urine mRNA splice variants can be used to monitor systemic diseases with minimal or no clinical effect on the urinary tract. This study was able to generate additional funding from the US government.
The results of this study were published in Nature Communications in 2018: https://doi.org/10.1038/s41467-018-06206-0
Cell Lines
In 2016 MDF made a grant to RUCDR Infinite Biologics (DBA Sampled since 2022) and Rutgers University, which led to the creation of 21 human derived induced pluripotent stem cell lines (iPSC) from seven subjects for both DM1 and DM2. These iPSC lines are now available to commercial and academic users to test potential therapeutic compounds through the online catalog hosted by the National Institute of Neurological Disorders and Stroke (NINDS) Human Cell and Data Repository (NHCDR) and have been requested hundreds of times at https://stemcells.nindsgenetics.org/.
Industry Drug Screening Assay Development
A grant to fund the collaboration between Andy Berglund at the University of Florida, to develop a small molecule screening assay, and the Sanofi 2.7M compound library, led to a new potential therapeutic target identified as a result of the assay development testing process.
This was published in Proc. Natl. Acad. Sci. in 2019: https://doi.org/10.1073/pnas.1901893116
Natural History Studies
In a grant to Newcastle University in the UK to evaluate the natural progress of myotonic dystrophy, researchers showed that DM1 is associated with a substantial disease burden resulting in impairment across many different domains of patients’ lives, emphasizing the need for a holistic approach to medical management.
Study results were published in J Neurology in 2019: 10.1007/s00415-019-09228-w
Expansion of Current Care Resources and Programming
MDF expanded the resources and support we offer to community members, in order to make the quality of life of people living with DM the best it can be. To that end, we launched new regionally-based support groups, uploaded more recommendations on the Find A Doctor map, expanded programming at the MDF Annual Conference, and much more. MDF undertook a significant Care programs assessment effort, including review of the Myotonic Dystrophy Family Registry and a community survey, to identify new Care program needs and opportunities.
Advocacy with Policymakers, Regulators & Insurers
MDF hosted a strategic workshop with the Food and Drug Administration (FDA), researchers, and companies interested in myotonic dystrophy therapy development, as well as the first ever Externally-led Patient Focused Drug Development session with the FDA. The objective was to bring these groups together and educate them on the specific challenges and complications of myotonic dystrophy in order to inform efforts to develop clinical trial endpoints, biomarkers and advance the discovery of new therapies. Ensuring that FDA regulators and companies understand how variable and multi-systemic this disease has helped inform clinical trial design. Hearing from the FDA about the rigorous process involved in approving endpoints for trials has helped researchers and companies best target their biomarker, endpoint and trial development efforts. Our community is now better positioned for successful therapy development and clinical trial testing.
Animal Model Development & Drug Testing Facility
With the research community emphasizing the need to create a mouse model that more realistically mimics the disease that we see in humans so that we can test therapeutic approaches quickly and efficiently, MDF invested in the creation of a new mouse model and has continued to fund the development of new animal models that will allow researchers and industry to determine if a compound is safe and efficacious before testing on humans. A mouse drug testing facility was established at Jackson Labs, to help make it easier for drug companies to access animal models to test compounds.
Learn more about available DM animal models.
Improving the Future of the DM Community
MDF 3.0 demonstrated the importance of sustained, strategic investment across the entire DM ecosystem. By supporting researchers, clinical networks, community resources, advocacy, and essential drug-development tools, MDF helped create a stronger foundation for better care and future treatments.
Progress like this takes years of partnership and continued investment. With the support of the DM community, researchers, industry partners, advocates, and donors, MDF continues to build on this foundation and accelerate progress toward Community, Care, and a Cure.
