MDF 2018 Board and Community Leadership Summit

Published on Tue, 02/06/2018

2018 Board and Community Leadership Summit

MDF holds an offsite planning meeting in January every year to look at the Care and Cure landscape for myotonic dystrophy. The annual goals are to identify urgent and high-impact opportunities to improving quality of life of every person living with this disease while continuing to accelerate the search for therapies.

Our 2018 offsite occurred in late January, and generated some exciting new priorities for 2018 and beyond. This year’s event was titled “2018 Board and Community Leadership Summit”, and included 25 participants from the MDF Board, staff, representatives from the MDF UK Board, and leaders from the MDF community, as well as participants from the research and drug development arena and, for the first time, the Muscular Dystrophy Association. Attendees gathered at The Sea Ranch Lodge, in Sea Ranch, CA for a two-day retreat to consider the status of the environment for Care and a Cure for myotonic dystrophy, in terms of barriers and opportunities, programs and initiatives currently in place at MDF to address them, and recommendations for 2018 to continue to propel Care and a Cure for myotonic dystrophy forward.

2018 Care Program Recommendations – A Short List

The Care focus at MDF is comprehensive. The organization considers all aspects of care, including self-care, caregiver and family care, and clinical care from “bench to bedside.” Our attention to the Care pipeline is as comprehensive as that for our Cure pipeline. Some exciting programs and initiatives to be launched in 2018 include:

  • Consensus-based Care Recommendations for doctors treating myotonic dystrophy patients. MDF is awaiting feedback on our submission for publication of the first of a series of consensus-based clinical care recommendations, developed by MDF over the last two years with over 70 clinical professionals from western Europe, the U.K., Canada and the U.S. In total, 6 sets of recommendations have been developed, including:
    • Consensus-based Care Recommendations for Adults with Myotonic Dystrophy Type 1

    • Consensus-based Care Recommendations for Adults with Myotonic Dystrophy Type 2

    • Consensus-based Care Recommendations for Congenital and Childhood-onset Myotonic Dystrophy Type 1

    • And sets of consensus-based recommendations for key specialists, including cardiologists, pulmonologists and gastroenterologists.

Once published, these clinical care recommendations will be translated and disseminated to clinical programs and doctors internationally to help standardize and improve care for people living with myotonic dystrophy, many of whom know more about the disease than most of their clinical care providers. Families living with myotonic dystrophy will be key partners in the dissemination effort. MDF will also work with medical reference tools such as Medscape and UpToDate to ensure that the care recommendations are easily accessible.

  • Expanding our MDF DM Days pilot, bringing mini-MDF Annual Conferences to cities that haven’t been located near an MDF Annual Conference and that include significant MDF community members and a comprehensive clinical program. We have learned that many DM Days attendees do not anticipate being able to attend the MDF Annual Conference, hence these one-day events serve a critical outreach, education and engagement function for our community members.
  • Exploring opportunities to partner with specific clinical specialties such as ophthalmology, cardiology, gastroenterology and more, and their membership organizations, to improve disease awareness and shorten the diagnostic odyssey.
  • Increasing the tools available to clinicians on our website, and creating homepage-based links to make it easier for clinicians confronting a myotonic dystrophy patient for the first time to get the information they need to deliver quality care.
  • Addressing a clear lack of awareness of myotonic dystrophy, and MDF's work and resources among patients, families and clinical programs, and the brand confusion that exists between MDF and other patient advocacy organizations and foundations. Look for some exciting announcements in this area in the coming months.
  • Exploring opportunities to fund studies to develop the data needed to create a comprehensive evidence-based guideline to guide clinical care for patients. Evidence-based guidelines are the gold standard for establishing appropriate care programs for specific diseases. They not only direct physicians regarding patient care, but are also used by insurers and others to determine reimbursement decisions. Very little data currently exists that is rigorous enough to generate an evidence-based guideline for myotonic dystrophy, hence the need for many more studies, and MDF's significant investment in the Consensus-based Care Recommendations to bridge the gap.

2018 Cure Program Recommendations – A Short List

MDF has identified expanding the drug development pipeline and attracting more drug developers to myotonic dystrophy therapy development as a core focus for the Cure platform. The signature initiative we launched in partnership with MDF UK (Wyck Foundation) in 2015, MDF 3.0, looked at the entire drug development pipeline from academic bench research to payers and the marketplace to understand how to lower the risks associated with developing therapies for myotonic dystrophy, and encourage more industry and academic investment.

MDF 3.0 was a $5M + investment. Some projects concluded in 2017 and some projects are still ongoing. Read more about MDF 3.0 here.

The initiative that will follow MDF 3.0 will seek to double the number of drug developers significantly focused on myotonic dystrophy, and move more potential therapies from pre-clinical and phase I development to Phase II and III. A short list of some of the programs identified for 2018 and beyond includes:

  • A co-venture or venture-philanthropy investment program, to attract small biotech and academic researchers with compelling assets and expertise to myotonic dystrophy therapy development, and to ensure that organizations reviewing potential rare diseases put myotonic dystrophy at the top of the list;

  • Expanding our regulatory efforts to the European Medicines Association (EMA) -- the European equivalent of the Food and Drug Administration (FDA), soon to be based in Amsterdam. European regulators need to understand myotonic dystrophy, its natural history, the biomarkers and endpoint measures likely to be used in clinical trials, and what patients value in a therapy, in order to make good decisions regarding review and approval of future therapies. Patient groups are best positioned to mediate discussions with regulators on these issues. MDF has a strong relationship and list of accomplishments with the Food and Drug Administration that has fostered a collaborative atmosphere that will aid approval of drugs that meet legal, safety and efficacy requirements. The same relationship and outreach needs to be conducted with EMA, as virtually all Phase III clinical trials for potential myotonic dystrophy therapies will include international sites and international approval of safe and effective drugs is the goal.

  • Expanding and supporting the Myotonic Dystrophy Clinical Research Network (DMCRN), to capture the additional information on disease onset, progression and severity (‘natural history data’) that will help with disease understanding and treatment, clinical trial design, drug development and much more. The DMCRN, which now includes 9 total sites, is also focused on providing a standardized clinical trial and study environment for drug developers and scientists;

  • Drug Efficacy Testing Facility -- many clinical trials fail because of mistakes made during the animal testing phase of development. Drug developers need rapid, rigorous, and unbiased testing of potential therapies to help them make early stage go/no-go decisions. The drug efficacy testing facility would include characterization of the new DM1 BAC transgenic mouse model MDF funded as part of MDF 3.0, and work with an existing clinical research organization to establish mouse colonies and related tools;

  • A continuing focus on fellowship grants to bring more talented young researchers into the myotonic dystrophy research arena and encourage them to make myotonic dystrophy a long-term focus;

  • Launching and driving the recently announced $1M program to pursue gene editing technologies to develop a cure for myotonic dystrophy type 1.

Other Key projects will include an ongoing commitment to advocacy:

  • Pursuing continued funding under the Department of Defense Peer-reviewed Medical Research Project (PRMRP; MDF advocated for and won inclusion in the PRMRP research budget to fiscal year 2018 recently. Pursue designated funding for myotonic dystrophy research through the Department of Defense Congressionally-directed Medical Research Program (CDMRP); and continue to advocate for increased research funding for myotonic dystrophy at the National Institutes of Health (NIH) through innovative cross-disease partnerships. We will also launch Quarterly Grassroots Advocacy webinars; training and update materials, to continue to engage our outstanding MDF community members in advocacy

Likewise, MDF will continue to develop and expand the Board of Directors to ensure that it executes on its mandate of Wisdom, Wealth and Work in its leadership role at MDF, while representing the breadth and depth of the myotonic dystrophy community.

As with MDF 3.0, this is an aggressive and ambitious list of initiatives. We will keep you posted as the Board and staff of MDF design, fund and launch these key elements of the next phase of Care and a Cure at MDF.


Contact MDF via email or via phone at 415-800-7777.