What is the Medical School Roadshow?

MDF designed this volunteer initiative to educate the next generation of medical professionals about myotonic dystrophy in order to improve clinical care and shorten the diagnostic odyssey. MDF is partnering with medical schools to educate students about DM before they graduate and begin clinical work.

MDF Needs You!

We need participation from the people who know DM best: you and those in your family affected by DM. MDF will provide you with training, support in contacting medical schools, and a packet of information and tips. You'll then visit medical schools near your home to speak to second- or third-year students about myotonic dystrophy, including the disease mechanism, symptoms and your personal experience. You can help future doctors learn about DM in the most compelling way possible - by telling your story and providing a real-life picture of the disease in all its variability and whole-body impact.

Get in touch

If you have contacts at medical schools in the US or Canada and are interested in educating future doctors about myotonic dystrophy, we need your help! For more information or to get involved, please contact us at info@myotonic.org.

Get more details on the MDF Medical School Roadshow here.

MDF Advocate Has Impact

The Peer Reviewed Medical Research Program (PRMRP) consumer advocate Glen Wiggans, MD recently participated in the evaluation of research applications submitted to the PRMRP sponsored by the Department of Defense. Glen was nominated for participation in the program by MDF. As a consumer reviewer, he was a full voting member (along with prominent scientists) at meetings to help determine how the $330 million appropriated by Congress for Fiscal Year 2018 will be spent on PRMRP research.

Ensuring the Patient Voice in Grant Review

Consumer reviewers are asked to represent the collective view of patients by preparing comments on the impact of the research on issues such as diagnosis, treatment, and quality of life for a broad range of topic areas. When commenting on serving as a consumer reviewer, Glen said that, “I found this experience to be most enlightening. The scientific reviewers were very knowledgeable and participation on the panel provided insight into how scientific proposals are carefully evaluated for funding”.

Consumer advocates and scientists have worked together in this unique partnership to evaluate the scientific merit of research applications since FY99. Colonel Stephen J. Dalal, Director of the Congressionally Directed Medical Research Programs, expressed his appreciation for the consumer advocate’s perspective during the scientific review sessions. “Consumer advocates are an integral part of the CDMRP’s scientific review process. They provide a key ingredient to the review process, the patient’s perspective, which is real and urgent. The collaboration of Consumer advocates alongside the scientists’ subject matter expertise is a truly unique collaboration that is difficult to find in most medical research programs.”

Important New Federal Funding Source for DM Research

Scientists applying propose to conduct innovative research that has the potential to profoundly impact the development and implementation of medical devices, drugs, and clinical guidance that will enhance the precision and efficacy of prevention, diagnosis, and treatment across a wide range of disciplines. The PRMRP fills important gaps not addressed by other funding agencies by supporting groundbreaking, high-risk, high-gain research while encouraging out-of-the-box thinking.

More information about the DOD’s PRMRP is available here!

Thank you Glen!

Additional Funding Opportunities for Myotonic Dystrophy Researchers

MDF is thrilled to announce that myotonic dystrophy (DM) is now officially included as an eligible research area in the Fiscal Year 2019 Peer-reviewed Medical Research Program (PRMRP) of the U.S. Department of Defense. Legislation including the PRMRP, H.R. 6157, was signed into law on September 28, 2018.

PRMRP: a $300M Research Program

The PRMRP, part of the Congressionally-directed Medical Research Program (CDMRP), was launched to support a broad range of scientific and medical research, but only for diseases that are approved for inclusion in the program. The budget for the program is over $300M, and researchers involved in listed diseases may submit requests for funding.

Myotonic Dystrophy First Included in PRMRP in 2018

MDF and our community advocates worked for over 2 years to successfully list myotonic dystrophy as an eligible disease for PRMRP funding in the 2018 budget, and reached out to Senators Feinstein and Durbin to pursue listing in the 2019 budget as well. PRMRP disease listing has to be pursued and approved annually, and we are committed to an ongoing effort to maintain our eligibility for funding.

You Can Help!

Learn how you can help advocate with your congressional representatives for important projects like this. MDF will host an advocacy webinar and training on November 13 to provide updates on our current advocacy efforts and explain how you have a critical role to play in convincing congressional leaders to support our requests. Click here to register.

Thank You!

This critically-important research funding source would not be possible without the support and efforts of our Congressional champions, Senators Durbin and Feinstein, and our grassroots advocates across the country, who called and met with their congressional leadership. Thank you – you have made great things possible in myotonic dystrophy research!

Bringing Myotonic Dystrophy into the Newborn Screening Conversation

On February 14, 2025, the RNA Institute and the Myotonic Dystrophy Foundation (MDF) organized and co-hosted the first ever symposium exploring how to include myotonic dystrophy (DM) in newborn screening. Newborn screening is one of the most successful public health services testing all babies shortly after birth for certain genetic, life-threatening diseases. Conditions included in newborn screening are serious and life threatening and without early diagnosis would result in irreparable harm and death. Conditions included in newborn screening are also diseases that do not have treatments but benefit from early disease management thereby significantly improving clinical outcomes. Newborn screening identifies babies at risk for these diseases before symptoms start, ensures the best possible outcomes for all babies, and limits pain and suffering.

Click here to download the agenda from the Newborn Screening & Sequencing for Myotonic Dystrophy Mini-Symposium 2025! >>>

Looking for more detail? Scroll down for scientific and expert-level summaries, including a Scientific Abstract and a deeper technical overview.

The Power and Promise of Genome Sequencing

The meeting brought together researchers, doctors, public health leaders, industry experts, and patient advocates to share progress in genome sequencing, diagnostic tools, and pilot newborn screening programs. Laboratory tests using genome sequencing allow the identification of a select set of genetic diseases based on changes in a person’s DNA. Diagnostic genome sequencing is a comprehensive genetic test performed in a specialized laboratory. The test analyzes an individual's entire genome or DNA to identify potential disease-causing changes. It is increasingly used to diagnose rare and inherited diseases, particularly when other tests are either inconclusive or simply not available. By examining the entire genome, the test can detect changes that might be missed by other tests, potentially leading to a faster and more accurate diagnosis. Although such tests could help diagnose babies faster and cut healthcare costs, obstacles for implementing the tests include high costs, limited state funding, and the lack of treatments for infants with DM. Experts also discussed ethical concerns—like testing infants for untreatable conditions—but noted that early detection of DM would allow for planning, including engaging in preventive and pre-symptomatic health measures such as regular cardiac monitoring, raise awareness of the serious impact of anesthesia, and would also support research.

Next Steps Toward a Future with Newborn Screening for DM

Participants recommended the following next steps: tracking DM patients over time, piloting health-record studies to identify patients with DM earlier, promoting testing and reimbursement policies, educating medical providers about genome sequencing-based testing and early diagnostics through newborn screening, exploring and advocating for the addition of DM in prenatal screens, and involving the community to build supporting data and resources needed for DM newborn screening in the future.

Thank You to Our Hosts and Organizers

Scientific Summary: Newborn Screening for Myotonic Dystrophy

Background: On February 14, 2025, the RNA Institute and the Myotonic Dystrophy Foundation held a mini symposium to discuss how myotonic dystrophy (DM) could be added to newborn screening. Newborn screening is one of the most successful public health services testing all babies shortly after birth for certain life-threatening diseases. Conditions included in newborn screening are serious and life threatening and without early diagnosis would result in irreparable harm and death. Newborn screening identifies babies at risk before symptoms start, ensures best possible outcomes for all babies, and limits pain and suffering. Methods: The meeting brought together researchers, clinicians, public-health leaders, industry experts, and patient advocates. They reviewed advances in genome sequencing, diagnostic methods, and early pilot newborn screening programs.

Results: Experts agreed that rapid genome testing could speed up diagnosis and help lower healthcare costs. However, several barriers were raised:

• High testing costs
• Limited state funding and a shortage of infrastructure and trained personnel performing genome sequencing based newborn screening
• No existing treatments for infants with DM

Ethical Discussion: Participants debated the ethics of testing newborns for still untreatable conditions. Despite these concerns, they noted that early detection helps parents prepare and supports research progress. Recommendations: The group proposed several action items:

1. Follow diagnosed infants over time
2. Conduct pilot studies using electronic health records to identify undiagnosed patients
3. Advocate for supportive policies and pilot studies ultimately enabling newborn screening for DM
4. Educate healthcare providers about DM screening and genetic testing solutions
5. Explore adding DM to prenatal screen panels
6. Engage families and communities to build support for the adoption of newborn screening for DM

Conclusion: While acknowledging financial, logistical, and ethical challenges, the symposium concluded that early detection of DM offers clear benefits. A coordinated strategy—combining research, policy advocacy, provider education, and community engagement—is essential for future implementation.
 

Full Technical Summary: Symposium on Genomic Sequencing and Myotonic Dystrophy

Summary of Newborn Screening & Sequencing for Myotonic Dystrophy

Newborn screening (NBS) is a vital and extremely successful public health program aimed at the early identification of conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention – commonly before the onset of symptoms - can prevent death or disability, alleviate physical, emotional, and economic suffering, and enable children to reach their full potential. With the advancement of genomic sequencing technologies, there is growing interest and opportunity in expanding NBS to include a broader range of genetic disorders. This broadened scope includes conditions, like myotonic dystrophy (DM), for which early treatment may not yet be available but where early diagnosis can inform family planning, clinical monitoring, and guide future therapeutic development. The following summary synthesizes the discussion from a recent Myotonic Dystrophy mini-symposium hosted by the University at Albany’s RNA Institute and co-organized by the Myotonic Dystrophy Foundation and the RNA Institute. The following notes highlight the current state of the field, challenges, and future directions of NBS and genetic testing for DM.

Key Players weighed in on Newborn Screening

The discussions involved a diverse group of stakeholders from academia, industry, public health, and patient advocacy groups. Andy Berglund, PhD (Director, RNA Institute & Chair of Myotonic Dystrophy Foundation Scientific Advisory Committee) and Andy Rohrwasser, PhD, MBA (Chief Scientific Officer, Myotonic Dystrophy Foundation) co-organized and facilitated the meeting with key stakeholders in the field.

In a public session open to the community, key invited experts and opinion leaders summarized critical insights into NBS, myotonic dystrophy (DM), how NBS could be applied to DM, clinical and economic benefits supporting genomics based newborn screening, as well as technology opportunities today that could bridge until genomic NBS solutions would become available.

• Introduction to Myotonic Dystrophy and Therapeutic Landscape; Andy Berglund, PhD; Professor, Director of the RNA Institute, Co-Director, Center of Excellence in RNA Research and Therapeutics, University at Albany, Albany NY
• Introduction to Newborn Screening: How and Why Now? Andy Rohrwasser, PhD, MBA, Chief Scientific Officer, Myotonic Dystrophy Foundation, Oakland, CA
• Introduction to Congenital Myotonic Dystrophy, Nicholas Johnson, MD, MSc, FAAN, Professor, Director of the Center for Inherited Muscle Research, Virginia Commonwealth University, Richmond, VA
• NICU Sequencing: Ultrafast Solution: Scientific Evidence, Economic Sense, Stephen Kingsmore, MD, DSc; President/CEO of Rady Children’s Institute for Genomic Medicine, San Diego, CA
• Pilot Study: Towards Population Wide Sequencing; Wendy Chung, MD, PhD; Chief of Pediatrics, Boston Children’s Hospital, Professor, Harvard Medical School, Boston MA
• Newborn Sequencing in Public Health: How would it work in NY? Michele Caggana, ScD, FACMG; Deputy Director, Division of Genetics; Director, Newborn Screening Program; Department of Health, Wadsworth Center, Albany NY
• Rapid Advance in Analysis and Interpretation; Opportunities in EHR mining - before population wide screening? Mark Yandell, PhD; Professor, Director Eccles Institute Bioinformatics Program; Technical Director, Utah Genome Project; The University of Utah, Salt Lake City, UT

Key Meeting Outcomes and Insights

Following general presentations to the public and interested scientific community members at the University at Albany, the key stakeholders held an in-person discussion with a few virtual attendees. Several important outcomes and insights emerged from the discussion. The Guardian Study was highlighted, as a large-scale genomic screening initiative in New York City, which has screened over 15,000 participants to date and reported a 3.3% positive screen rate with an average turnaround time of approximately 22 days.

Whole genome sequencing (WGS) in neonatal intensive care units (NICUs) was highlighted as the ultimate promise in the ultra-rapid diagnosis reducing time-to-diagnosis and eliminating diagnostic odysseys, but also reducing pain and suffering based on misdiagnoses and associated unnecessary diseases management, while also significantly reducing healthcare costs. The stakeholders also highlighted that repeat expansion disease testing is gaining attention, particularly for conditions such as congenital myotonic dystrophy.

While support for the need for increased testing was strong amongst the group, significant policy and infrastructure challenges were noted. Many states currently lack formal policies for reimbursement for WGS diagnostics, posing a significant fiscal challenge to NBS screening programs. While New York State has pilot programs, there is no statewide policy in place for the selection of disease candidates. Sequencing costs, estimated at around $60 per newborn, along with the need for equipment redundancy and trained personnel, were also raised as significant logistical barriers. The rigorous nature of the Recommended Uniform (newborn Screening) Panel (RUSP) nomination process, which involves a nine-month review process and a 120-day decision window requiring strong evidence of treatment efficacy and public health impact would be significant challenges at this time. This is further complicated by the current administration’s dissolution of the Secretary’s Advisory Committee for Heritable Disorders in Newborns and Children that halted the process and disrupted the mechanism for adding or removing disorders from the recommended panel.

The need for an effective treatment for newborns with DM was discussed as an important point needed to support NBS. Given that clinical trials are currently primarily focused on adults, it was noted that the timeline for approved treatments for newborns was unclear. Foundational to this lack of treatment however is long-term natural history and outcome data for children affected by the early onset form of DM.

Ethical and social considerations were also discussed by the group. Concerns were raised about the implications of screening for conditions without available treatments, including the significant psychological impacts to the affected families and issues associated with insurance and insurability. Clinicians and patient advocates raised the point that early diagnosis can significantly affect family planning and emotional well-being of DM families. There was universal recognition of need for further real-world data and comprehensive, long-term natural history studies, given that many symptomatic individuals remain undiagnosed.

Recommended Next Steps

Several next steps were recommended by the group to advance the field. In terms of research and data collection, more long-term natural history and outcome studies were recognized as essential to understand disease progression and optimal treatment timing. The latter was a key highlight for myotonic dystrophy type 1 (DM1), which is highly heterogeneous in presentation between affected individuals. Integrating real-world data and study data, exploring genotype-phenotype relationships through collaborations with organizations like MDF and academic networks were also raised as crucial next steps. Pilot studies, utilizing EHR mining identifying undiagnosed DM patients for example in the Intermountain Health system, could help assess the feasibility and outcomes of broader implementation and bridge towards the implementation of newborn screening.

From a policy and advocacy perspective, gaining provider buy-in is critical. Here, for example RTI-led focus groups and precedence from other diseases were identified to potentially help to identify provider perspectives and barriers as well as preparing comprehensive evidence packages for RUSP nominations, including cost-benefit analyses and patient impact data. While the likelihood of NBS screening for DM1 was recognized as being years away from reality, the potential of maternal screening initiatives for DM, potentially in partnership with professional organizations like American College of Obstetricians and Gynecologists (ACOG), American College of Medical Genetics and Genomics (ACMG) or Society for Maternal-Fetal Medicine (SMFM) and commercial reference laboratories through integration in existing maternal panels was recognized.

Community engagement was identified as a key focus area raised by the experts and stakeholders alike. The collective group believed that targeted educational materials should be developed to inform families about the opportunities, implications and options related to genetic testing. The involvement of a broad coalition of stakeholders, including families, advocacy groups, and clinicians, was felt to be essential to align priorities and address ethical considerations. The group also believed that current efforts should include ensuring equitable access to testing and support systems for newly diagnosed families.

In summary, while the implementation of NBS for DM faces significant logistics and regulatory hurdles given the lack of an approved treatment approach for newborns affected by the disease, there was recognition of the power, opportunity and necessity of screening and diagnostic sequencing to make an impact on the DM community.

Do You Think US Congress Should Support More DM Research Funding?

Join the Myotonic Dystrophy Foundation (MDF) for a webinar on February 11th at 4pm Pacific to learn how you can help increase research funding for myotonic dystrophy (DM) and become a US State Advocacy Captain.

For the past seven years, with the support of MDF advocates like you, the US Congress has made DM eligible for research funding through the Peer-Reviewed Medical Research Program (PRMRP). This has led to over $24 million in new funding, bringing us closer to the first FDA-approved treatments for DM. But we need your help to push for an additional $10 million in dedicated DM research funding.

This February, during Rare Disease Month, join us to learn how you can make a real difference by becoming a US State Advocacy Captain. Congress needs to hear from more people about the challenges of living with DM and the urgent need for more research funding.

Register Now!
 

What Does a US State Advocacy Captain Do?

As a US State Advocacy Captain, you’ll be part of a nationwide network of MDF volunteers who lead advocacy efforts in their states. You’ll:

• Lead efforts to raise awareness about the challenges of living with DM.
• Coordinate congressional meetings to advocate for DM research funding.
• Discuss progress and help strengthen the movement for more funding.

In this webinar, we’ll show you how to get started, teach you key advocacy skills, and explain how MDF can support you to help you succeed. Click here to register now!

Register Now!

Don’t miss your chance to help make a real impact for the DM community this Rare Disease Month. Together, we can secure more research funding and bring us closer to life-changing treatments.

Register Now!
 

Will Accelerate Discoveries in Myotonic Dystrophy and Related Genetic Diseases

The Myotonic Dystrophy Foundation (MDF) announced today that the U.S. House Appropriations Committee included a MDF led provision in the fiscal year 2023 Labor, Health and Human Services funding legislation (page 153) that will help establish a new Repeat Expansion Disease Initiative (REDI) at the National Institutes of Health (NIH) to increase federal funding for research on repeat expansions like myotonic dystrophy including new funding mechanisms across multiple institutes to support scientific discoveries that will lead to treatments and cures for myotonic dystrophy and related genetic disorders.

In related MDF research advocacy news, efforts continue to secure continued eligibility (sixth year in a row) for myotonic dystrophy research as part of the Department of Defense Peer-Reviewed Medical Research Program (PRMRP) and for a new myotonic dystrophy research funding line-item in the Congressionally Directed Medical Research Program (CDMRP). Advocacy continues as the Senate Appropriations committee considers their version of this legislation and a final bill that includes details on these programs are expected in the fall.

In the House report, the committee recognized the rapidly emerging science on DNA repeat expansions and cited myotonic dystrophy (DM1 and DM2) as being a paradigm for a class of diseases caused by repeat instability and toxic RNA. Based on the opportunity to advance new groundbreaking research, the Committee is asking NIH to establish a trans-NIH Repeat Expansion Disease Initiative (REDI) to increase federal funding for research on repeat expansions including new funding mechanisms across multiple institutes to support scientific discoveries that will lead to treatments and cures for myotonic dystrophy and related genetic conditions. Under the legislation, NIH is required to provide the committee with an update on these efforts in early 2023 as part of the President’s fiscal year 2024 budget justification.

Congressional report language provides more detailed guidance to departments and agencies than is provided in appropriations bills. The REDI provision reflects the final views of the House Appropriations committee and will take effect upon the start of the new fiscal year 2023 in October. MDF and our advocates are urging the Senate Appropriations committee to include identical language in their fiscal year 2023 report which is not yet finalized although companion Senate report language is not required for this initiative to move forward. MDF will be working with the NIH, Congress, and our research community help with the implementation of this exciting new research initiative. 

Repetitive sequences comprise most of the human genome and have been a major roadblock to obtaining the full sequence of the human genome. It was only recently that the NIH-funded T2T consortium was able to generate full, end-to-end sequencing of all human chromosomes, published in Science, in April 2022. These repetitive sequences are the source of over 50 (and growing) distinctive disorders caused by DNA repeat expansions. Myotonic dystrophy type 1 and 2 are repeat expansion diseases and have served as paradigms for a class of diseases caused by repeat instability and toxic RNA, which includes C9ORF72/amyotrophic lateral sclerosis/frontotemporal dementia, Huntington’s disease, and many common forms of dominantly inherited ataxia. Over the past several decades, researchers have begun to understand how these mutations drive pathogenesis in many of these diseases, but new repeat expansion diseases continue to be discovered, and the recent genome sequencing data described above provides a new roadmap for both normal and pathologic functions of repeats.

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are caused by a CTG repeat expansion in the DMPK gene and a CCTG repeat expansion in the CNBP gene, respectively. These repeats are typically present in <30-50 contiguous copies in healthy individuals, but can expand to hundreds or thousands of copies in patients. These expansions prevent cells in the muscles, heart, and brain from functioning normally, leading to symptoms of myotonic dystrophy. Affecting as many as 1 in 2,100 individuals, myotonic dystrophy is the most common form of adult muscular dystrophy and considered the most variable of all known conditions; however, there is currently no cure and there are no approved treatments.

While U.S.-based researchers at the University of Florida, University of Rochester, Stanford University, Emory University, Baylor College of Medicine, and others are making progress to study how repeat expansions disrupt healthy gene regulation and cause disease symptoms, federal funding and coordination have been limited. Recognizing the current exciting landscape in biomedical research, the recently completed full sequence of the human genome, and emerging broad interest in repeat expansion diseases among patient advocacy groups and basic scientists, the Myotonic Dystrophy Foundation and our Scientific Advisory Committee urges Congress and the NIH to establish a new trans-NH Repeat Expansion Disease Initiative (REDI) within the Office of the NIH Director to fund new research and accelerate scientific discovery in this important new field. 

For example, we believe new federal research investments in the use of short- and long-read sequencing, high-throughput/high-resolution imaging, high throughput DNA synthesis technologies, and use of patient-derived cell biological tools/reagents will help scientists to better understand how the repeating RNAs cause a myriad of symptoms in virtually all tissues of the body, including skeletal, cardiac, and smooth muscle, and tissues of the central nervous system. We believe that new investments in studies of DM pathogenesis and RNA regulation will accelerate efforts to identify treatments and eventually cures for DM and other related diseases. 

The Myotonic Dystrophy Foundation (MDF) was founded in 2007 by families seeking answers and support. The MDF mission is "Community, Care and a Cure,": We support and connect the myotonic dystrophy community; We provide resources and advocate for care; We accelerate research toward treatments and a cure. Through direct services, research, education, and advocacy, MDF empowers the DM community, improves access to effective healthcare, and eliminates barriers to drug development. MDF is the leading global advocate helping individuals and families navigate the DM disease process and is often the first resource contacted by newly diagnosed patients, their families, their social workers, and their physicians around the world.

To learn more visit: www.myotonic.org

Click here to learn more about MDF's advocacy efforts.

Learn more a

Beginning in September 2016, MDF met with senior officials at the Social Security Administration (SSA), both at their headquarters in Baltimore, Maryland and via conference call, as part of our efforts to improve the process of applying for Social Security disability benefits for people with myotonic dystrophy. As a result of many months of meetings with the agency, MDF is extremely pleased to announce that Social Security Commissioner Nancy Berryhill has agreed to add congenital myotonic dystrophy as one of three new conditions newly-included in the agency’s Compassionate Allowances program. Read the SSA press announcement here.

For individuals with congenital DM and their caregivers, this means we can eliminate much of the red tape involved in applying for disability status and successfully receiving benefits. The Compassionate Allowances program is designed to quickly identify serious medical conditions that very obviously meet Social Security's standards for disability benefits and expedite a favorable decision on benefits.

We have long recognized that navigating the Social Security disability benefits application process is long and difficult, and it can take many attempts to be successful. The MDF Social Security Admininstration Toolkit and our Warmline live phone support for SSA applicants are two ways that we have worked to improve our community's access to SSA benefits. 

The September SSA announcement is a major step forward in our efforts to improve the process for our community. This was a hard fought effort, but we know that more work remains to be carried out on behalf of other MDF community applicants. We will continue to work to improve the program for everyone in the DM community.

"We will not forget your faces or your stories. Please know that all of your efforts will make a contribution to making [the regulatory review] process go smoother when a new treatment comes to the FDA to be reviewed."  -Dr. Larry Bauer, regulatory scientist, U.S. Food and Drug Administration (FDA)

DM PFDD Meeting Report Submitted to FDA

As many of our community members know, MDF held the first myotonic dystrophy (DM) Patient-Focused Drug Development (PFDD) meeting with key senior leaders from the Food and Drug Administration (FDA) as part of the 2016 MDF Annual Conference in September 2016. The DM PFDD meeting, which was the first Externally-Led PFDD Meeting sanctioned by the FDA as well as the first PFDD meeting focused on DM, presented community member perspectives on the most burdensome and most prevalent DM symptoms and what affected individuals would consider meaningful benefit from future therapies.

Well over 200 community members, industry professionals, academic researchers and FDA representatives attended the DM PFDD meeting live and via the live stream MDF provided. FDA leadership including Dr. Janet Woodcock, who oversees all drug evaluation and research at FDA as the Director of CDER; Dr. William Dunn, who is the Director of the Office of Drug Evaluation 1 – Division of Neurology Products, the division that will review all DM therapies; Dr. Jonathan Goldsmith, Associate Director of the Rare Diseases Program, Office of New Drugs, CDER/FDA; Dr. Larry Bauer, a regulatory scientist in the Rare Diseases Program; and a number of additional representatives from the Office of Health and Constituent Affairs, the Office of Translational Sciences, the Study Endpoints team, and others also attended.

The final task in the DM Externally-Led PFDD initiative was the creation and submission of a Voice of the Patient Report (VOP) to the FDA with comprehensive results of the meeting, including a comprehensive summary of the meeting and discussions, detailed polling results, audience demographics, a listing of FDA participants and panelists, as well as a report on the Benefits/Risks Study MDF conducted with the Silicon Valley Research Group in 2015. MDF submitted the VOP to FDA in May 2017 for distribution to internal FDA leadership, dissemination to the Neurology Products Review Division for inclusion in the benefit/risk framework used to assess potential DM therapies, and to ensure that FDA decisionmakers understand DM disease impacts as described by those living with the disease, and what our community would find clinically meaningful from future therapies.

MDF thanks our PFDD panelists, FDA leadership who helped bring the meeting to life, and Ionis Pharmaceuticals for providing attorney and former FDA professional James Valentine as a consultant on the project.

Questions?

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

Related Articles and Blog Posts

• DM PFDD Meeting - Bringing Your Voice to Therapy Development
• Help the FDA Review Potential DM Therapies
• Big Changes Ahead for the FDA Could Benefit MDF Dystrophy

The AHCA

In March, Republican Members of the U.S. House of Representatives’ Committee on Ways and Means and the U.S. House Committee on Energy and Commerce introduced legislation, entitled the American Health Care Act (AHCA), that would repeal and/or replace major parts of the Affordable Care Act (ACA). The ACA (also known as Obamacare) expanded health care coverage for more than 20 million vulnerable Americans and prohibited health insurance plans from discriminating against individuals with pre-existing conditions like myotonic dystrophy (DM). MDF is committed to advocating to help ensure that all persons with DM have affordable, comprehensive health insurance.

MDF Response and Your Opportunity to Act

MDF has reviewed the legislative proposal and identified significant concerns about how the proposed changes would limit access to affordable, quality health insurance coverage and vital medical care, especially for individuals living with rare, complex and costly conditions like DM. As Congress debates repealing and replacing the ACA, we urge our community to inform their elected Representatives and Senators to carefully consider any significant changes to health care and ensure that the interests of all Americans needing health care, especially those with special needs, including persons with DM and their families, are fully protected.

Potential AHCA Impacts to DM Families

The Congressional Budget Office (CBO) AHCA Cost Estimate released on March 13, 2017, estimated that, in 2018, the AHCA legislation would change the number of people who obtain federally-subsidized health insurance through Medicaid, the nongroup market and the employment-based market—an estimated 14 million more Americans would be uninsured under the AHCA legislation than under the current ACA law.

The Congressional Budget Office estimates that the AHCA would tend to increase average premiums in the nongroup market prior to 2020 and lower average premiums thereafter, relative to projections under current law. Medicaid enrollees, according to the CBO estimates, would decrease by $880 billion over the 2017-2026 period, as the result of lower enrollment culminating in 14 million fewer Medicaid enrollees by 2026. Under the legislation, beginning in 2020, the federal government would no longer share in the open-ended financing of Medicaid. The AHCA would establish a limit on the amount of reimbursement it provides to states, with states bearing all of the burden for increased costs. 

Specifically, MDF is concerned about the following AHCA provisions:

• Insurance Subsidies. For individuals and families seeking health insurance who do not have group-based/employer-based coverage, AHCA would provide tax credits that would vary on the basis of age (not household income) between $2,000-$4,000 for individuals (more families) that could be used to purchase health insurance. These tax credits will be significantly lower than those currently offered under the ACA and could make it more difficult for lower-income individuals and families to afford health insurance. 
   
• Continuous Coverage Penalty. The AHCA requires nongroup or small-group market health plans to impose a substantial late enrollment fee (a surcharge equal to 30 percent of their monthly premium for up to 12 months) for individuals who reapply for coverage after going more than 63 days without health insurance coverage. 

The likelihood of having interrupted coverage is greater for those changing jobs, including people living with DM who may change or lose employment due to the significant physical and cognitive impairments. The AHCA thereby penalizes individuals with DM and other chronic conditions.

• Medicaid Expansion & Caps. Under the ACA, many states expanded eligibility for Medicaid coverage that was supported by additional federal funding. This would end in 2020 under the proposal, and many individuals currently receiving Medicaid coverage would lose coverage. Medicaid currently requires coverage for persons who qualify based on their income and their disability status. 

MDF is concerned that eliminating expansion funding and capping the federal contribution to state Medicaid programs could result in persons with DM losing coverage, and those who keep their Medicaid coverage could see a reduction in covered medical services and higher out-of-pocket costs. 

• Age Rating Rules. Beginning in 2018, AHCA would increase the limits on how much insurers in the nongroup and small-group markets can vary premiums on the basis of age. For example the premium for a 64-year-old could be three times to five times higher than the rate a 21-year-old is charged. This could adversely affect the adult-onset DM population.

MDF is pleased that the AHCA retains the following ACA provisions:

• Pre-Existing Condition Protections. Health insurers would still be prohibited from denying critical insurance coverage to individuals who have a “pre-existing” medical condition like DM, heart disease, diabetes and cancer. 
   
• Young Adult Coverage. Parents could keep children up to age 26 on their health insurance policies. 
   
• Lifetime & Annual Caps. Insurers would continue to be prohibited from setting annual and lifetime limits on health insurance expenditures they cover.

Next Steps - Get Involved

MDF will continue to advocate in a bipartisan manner to help ensure that all persons with DM have affordable, comprehensive health insurance with access to high quality medical care and therapies. Since it is anticipated that AHCA will be amended as it advances on its legislative journey to become a law, we will continue to closely monitor the evolving bills and offer our expertise. However, it is imperative that members of the MDF community become actively involved in advocating for ensuring access to affordable quality medical care for individuals with DM in their local areas as ACHA will likely include greater state-based choices.

Questions?

Contact MDF for more information at 415-800-7777, or info@myotonic.org.

Thanks to the hard work and commitment of advocates from the MDF community and many others, the 21st Century Cures Act has just been signed by U.S. President Barack Obama. This legislation is designed to enhance the drug review process and accelerate the approval of therapies to treat and cure rare diseases like myotonic dystrophy (DM). Thank you to all of you who who met with your members of Congress during our annual Hill Days, wrote your congressional leadership during our 500 Voices Campaign and helped raise the profile of the Act in Congress.

Bipartisan Effort

The 21st Century Cures Act was a bipartisan effort that originated in the U.S. House of Representatives under the leadership of Energy & Commerce Committee Chairman Rep. Fred Upton (R-MI) and ranking member Rep. Diana DeGette (D-CO). The legislation is intended to improve the Food and Drug Administration's (FDA) regulatory review process and provide an additional $8.75 billion over 5 years to the National Institutes of Health (NIH), to help put the NIH on a path to long-term growth and continued investment in medical research.

Funding and Regulatory Impact

Among the many stipulations of the Act, it:

• Authorizes the CDC to create the National Neurological Conditions Surveillance System to better track neurological diseases;
• Authorizes $500 million over 10 years to accelerate regulatory review through the initiatives included in Cures (below);
• Requires the FDA to issue data upon approval of a product stating how patient experience data informed the review process and decision;
• Requires issuance of additional guidance on how to collect and utilize patient experience data as a patient-focused drug development (PFDD) tool;
• Establishes a pathway for review and qualification of biomarkers/drug development tools;
• Allows applicants developing products for rare disease to include data from previously approved submissions involving the same or similar underlying technology to accelerate development and delivery of rare disease therapies; and
• Extends the Pediatric Rare Disease Priority Review Voucher to Sept. 30, 2020, and allows issuance of vouchers through 2022 if a designation for a candidate therapy was provided before Sept. 30, 2020.

Thank you!

Together we have made a difference! Thank you for all you do to drive Care and a Cure for DM!