2016 was a banner year for the Myotonic Dystrophy Foundation. We completed our 10th year driving Care and a Cure for people and families living with DM, wrapped up year 2 of a 3-year, $5M drug development acceleration effort and oversaw the largest expansion of our Care programming and resources ever.
The MDF team and the outstanding community volunteers who advocate and fundraise for MDF worked diligently in 2016, and their hard work paid off.
The 2016 Focus on Care
Improving the quality of life of people living with DM, their caregivers and families is the overarching goal of everything we do at the Foundation.
The 2016 Care agenda was our most significant yet, and included:
- Helping coordinate the creation of the first-ever clinical care recommendations for myotonic dystrophy via a collaboration with more than 60 international physicians from western Europe, the U.K., Canada and the U.S. As our community knows, there are currently no standards of care for DM, and both clinicians and families struggle to ensure that DM patients are getting the right care and avoiding care complications that result from a lack of understanding of the disease and its many symptom manifestations.
The first project, Consensus-Based Care Recommendations for Adults with Myotonic Dystrophy Type 1, focused on care for adults living with myotonic dystrophy type 1 (DM1); the Quick Reference Guide and long-form versions of that care guideline are expected to be released in early 2017, along with a scientific journal publication currently under development
Additional clinical care recommendations for congenital and childhood myotonic dystrophy (CDM) and myotonic dystrophy type 2 (DM2) are now underway and should be completed in Fall 2017, along with development of system-specific guidelines targeted to clinical specialists, including cardiac, respiratory, gastroenterology and others. MDF and our clinical working groups believe that these resources will significantly improve the ability of general neurologists and other primary care providers to appropriately care for people living with DM, while assisting families in advocating for proper care from their doctors.
- Developing the first-ever guide to help people and families living with myotonic dystrophy understand and successfully navigate the U.S. Social Security Administration (SSA) disability benefits application process. Paul Formaker, MDF Program Director, also serves as an expert resource on SSA applications, helping MDF Warmline callers figure out the process and advising on next steps. MDF developed the MDF SSA toolkit, entitled "Applying for Social Security Disability Benefits: A Toolkit for People Living with Myotonic Dystrophy," with support and guidance from SSA, and the agency reviewed and approved the final version. The MDF SSA toolkit will be released on January 31, 2017. Visit the Toolkits & Guidelines page to download a copy.
- MDF conducted research on the status of DM care (from self- and family care to clinical care) and identified new Care programs and resources for 2017 implementation. Some of these initiatives will include community participation and are expected to result in additional resource toolkits and support programs and events. Stay tuned for more on these new programs in the spring.
- MDF also expanded the MDF Warmline, MDF’s regional and virtual support group network, and the 2016 MDF Annual Conference that included our largest offering ever of community-focused programs.
The 2016 Focus on Cure
MDF completed the second year of our three-year initiative, MDF 3.0: Accelerating Drug Development, resulting in significant advancement of the drug development acceleration agenda. The Foundation, with our partner the Wyck Foundation, launched or funded several dozen new projects and over $2M in funding programs that included:
- Attracting new pharmaceutical and biotechnology firms to therapy development for DM
- Developing a new ‘mega’ mouse model for DM1 research to express the DMPK triplet repeat expansion in all body tissues, including the brain, to better serve preclinical drug development efforts
- A project to create the first-ever cell line library for DM1 and DM2 to support early-stage drug screening projects and respond to cell line requests from industry and academic investigators;
- Oversight of a two-phased population-based study of the prevalence of DM1 and DM2 in the U.S., the first large-scale study to help determine the prevalence of both diagnosed and undiagnosed cases of DM in a population
- Funding for new clinical endpoint studies, biomarker panels and related drug development de-risking efforts
- Expansion of the Myotonic Dystrophy Clinical Research Network (DMCRN) to a total of eight U.S. sites and support for the development of a new DMCRN study to develop more critically-needed data on myotonic dystrophy
- Launch of new postdoctoral fellowships in DM research, bringing the total funded to 24 and the total number of current fellows to 8
- Development of an MDF industry engagement policy to ensure transparency, confidentiality, and fairness in interactions between MDF and industry, and manage potential conflicts of interest
- Completion of several articles for publication in peer-reviewed scientific journals on the burden of disease people living with DM experience, a report out on the Myotonic Dystrophy Family Registry and findings to date, and a report on the 2015 FDA workshop MDF hosted to help industry and the academic community understand FDA perspectives on elements of clinical trial design for myotonic dystrophy
The Cure agenda included much more DM research, drug development acceleration and related advocacy work, but the list is frankly too long to print here! Contact the Foundation if you would like more information on MDF 3.0 and MDF’s efforts to accelerate therapy development for myotonic dystrophy.
2016 MDF Advocacy Efforts Driving Care and a Cure
Thoughtful advocacy efforts help drive the success of key initiatives in both Care and Cure. MDF was equally active on the policy and advocacy front in 2016, and we had outstanding support and participation from the DM community in much of this work.
- Particularly important was MDF’s work producing and hosting the first-ever externally-led Patient Focused Drug Development (PFDD) meeting in September. The meeting, which included over 200 community members, industry and research professionals, and Food and Drug Administration (FDA) leadership, was designed to educate key staff at the FDA, the US federal agency that oversees the review and approval of potential therapies, about myotonic dystrophy.
Dr. Janet Woodcock, head of the Center for Drug Evaluation and Research (CDER) at FDA, and a number of other FDA leadership attended and spoke at the meeting, and FDA feedback to MDF indicated that the meeting was particularly successful in educating the FDA about the very real burden our community faces, the urgent need for therapies and what DM patients will consider meaningful benefit from future treatments.
In the words of an FDA senior scientist, “… the FDA attendees were enlightened, deeply moved and educated about the realities of living with Myotonic Dystrophy. We will not forget your faces or your stories. The meeting also made it extremely clear how much a treatment is needed for DM. Please know that all of your efforts will [help make] that process go smoother when a new treatment comes to the FDA to be reviewed.”
- MDF focused on increasing U.S. government agency investment in DM research. The Foundation, working with members of Congress, secured a provision in the report that accompanies the fiscal year 2017 Appropriations legislation funding the National Institutes of Health (NIH) that requests a first-ever DM research update to Congress. This report to Congress will outline current and future plans for DM research at NIH that will hopefully lead to funding outcomes in the U.S. President’s fiscal year 2018 budget. MDF’s work with Congress to move this work forward continues in 2017.
MDF also launched an advocacy effort to secure inclusion in a special U.S. Department of Defense (DOD) research grants program that would make DM researchers eligible to apply for DOD medical research funds. Other muscular dystrophies and diseases are already included in this program, and MDF hopes to add DM to the list. This initiative, which has required significant support and partnership from key members of Congress, will continue in 2017.
- The Foundation initiated a multi-pronged effort with the Social Security Administration regarding access to disability benefits. In additional to creating and launching the MDF SSA toolkit referenced above, the Foundation is working to get congenital myotonic dystrophy (CDM) added to the SSA listing of conditions that are eligible for Compassionate Allowance status, which permits expedited review and approval disability applications. MDF expects SSA to make a decision on this request in early 2017.
On to 2017!
The list of 2016 Care and a Cure work goes on, and we are happy to discuss these and any other 2016 projects with interested community members. We do this work with and for the MDF community because we cannot wait for therapies, and we must improve the quality of life of people living with DM now.
Thank you for all you have done to support MDF and our work. The Foundation is funded solely by donations from MDF community members like you, and we could not do this work without you! We look forward to an even more powerful and impactful year as we launch our second decade in 2017.
Questions? Contact MDF via email or by phone at 866-968-6642.