Did you know that MDF has 22 in-person support groups throughout the country, and 5 virtual support groups? MDF recently launched two new monthly virtual support groups:

1. A supportive Facebook chat for Juvenile-onset Adults
2. A DM2 group phone call

MDF also hosts monthly virtual support groups for:

• Adult-Onset DM
• Caregivers of Congenital and Juvenile-onset Adults
• German speakers with DM

These groups are a great way to get connected to others in the DM community and to share stories, experiences and support. We encourage you to attend one of our groups that fits your needs! Learn more about MDF's support groups, here!

Looking for upcoming support group meetings? Check out the MDF calendar for a list of all MDF events.

Questions?

If you are interested in starting a support group in your area or need additional support, please contact us info@myotonic.org.

MDF will host a Workshop on CNS involvement in DM and the development of outcome measures for CNS-targeting therapies on September 12, 2019, in conjunction with the MDF Annual Conference, September 13-14, in Philadelphia, PA.

This Workshop will examine the natural history of DM1, DM2 and CDM and the underlying scientific premise for targeting therapy development to address the CNS phenotype, a key contributor to overall burden of disease. Through platform presentations and focused discussion sessions, the Workshop will seek to identify targetable CNS phenotypes, evaluate the current knowledge of the underlying disease mechanisms and molecular targets, and discuss what biomarkers and outcome measures might best demonstrate the clinical effectiveness of drugs and biologics in patients living with DM1, DM2 and CDM.

The meeting will take place from 8:00 AM to 4:00 PM. Lunch will be provided.

Click here to see the working agenda.

Registration Open Now

The Workshop agenda is currently under development. Interested parties are encouraged to register for the CNS Workshop and the 2019 MDF Annual Conference.

Nationwide Children’s Hospital and Ohio State University have operated a 5-day myology training course for the last seven years. The course includes common lectures in the mornings and separate clinical and laboratory tracks in the afternoons. MDF staff have participated as course lecturers in the past and attest to the value of the course. Trainees accepted for the course pay only for travel and some meals, as there is no cost for the course itself or for local lodging. Attendance is capped at 60 (30 in each track), so those interested need to register quickly.

A slightly shortened version of the course announcement from Dr. Kevin Flanigan is provided here.

“I would like to invite you to send your trainees to the eighth annual Nationwide Children’s Hospital/Ohio State University Myology Course, to be held at Nationwide Children's Hospital from Monday, August 26th through Friday, August 30, 2019. The goal of this course is to provide trainees with an up-to-date and expert survey of neuromuscular diseases. The expert faculty will address clinical syndromes, mechanisms of pathogenesis, molecular therapeutics, and aspects of career development.

“The course is available to both pre-and post-clinical trainees, and both clinical- and laboratory-based trainees are welcome. We have structured the course so that both groups will be together for morning lectures.

“The Clinical Track is primarily directed at clinical fellows (in Neuromuscular Disease; Genetics; Electrophysiology; Physical Medicine & Rehabilitation; etc.), although other specialties and levels of training will be considered.

“Trainees in the Laboratory Track will have electives to choose from for the afternoon lab courses.

“The course is sponsored by Parent Project Muscular Dystrophy and the Muscular Dystrophy Association.

“Register at http://bit.ly/19MYO. In order to register for this course, the trainee must (1) fill out the form at the link, and (2) submit a CV or biosketch to kevin.flanigan@nationwidechildrens.org. I will confirm their eligibility for the course. Their registration will not be complete until they receive confirmation from me of their acceptance.”

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.

A tropical paradise was the ideal spot for the 2018 MDF Gala, November 8th – 10th. MDF supporters from Hawaii and the mainland came together for three days of fun activities, including: casual and competitive bike excursions, a cocktail party on Thursday evening, and the Friday Night Burgers on the Beach featuring a special performance by MDF community member and performing artist Eric Hutchinson.

Hosted and led by community member Alison Woods and her Gala Committee, the Gala and Live Auction were held at the beautiful Luau Grounds of the Mauna Kea Beach Hotel. Over 250 guests attended the Gala and enthusiastically bid for MDF's special live auction items that included world class getaways to Mexico, Costa Rica and England.

We are delighted to announce that the weekend raised $470,000 in funds that will continue to advance Care and a Cure for our community members with DM.

Beautiful weather, exceptional sunsets and generous supporters reminded everyone that “getting away for a good cause” is an ideal way to support MDF and our mission of Care and a Cure.

If you joined us at this year's Gala, we are deeply grateful for your participation and support. We hope to see you and others interested in joining us next year at the 2019 MDF Gala in Los Angeles.

Check out our feature in West Hawaii Today!

For more photographs from the event, please visit Ann Ferguson's Gallery.

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.

MDF est ravi de lancer un nouveau groupe de soutien international pour les francophones en janvier 2025! Ce groupe sera notre troisième groupe linguistique international et espère impliquer les membres de notre communauté du monde entier. Deux facilitatrices d’expérience, Sarah Berman et Julie LeBoeuf, sont rejointes par une nouvelle bénévole, Marie-Claude Sauvé, pour lancer ce nouveau groupe de soutien. Ces bénévoles de la communauté sont prêtes à créer un espace pour les nouveaux et anciens membres de la communauté. 

Lorsque leurs familles ont reçu un diagnostic de DM, elles ne connaissaient rien de la maladie et ne savaient pas où s’adresser pour en savoir plus. Devenir SGF leur permet de puiser de la force en appuyant d'autres familles comme les leurs, en contribuant au changement et en faisant de la sensibilité sur la dystrophie myotonique.

Le groupe de soutien francophone international, qui se réunit quatre fois par an, espère créer un espace où la communauté pourra trouver des informations pertinentes et faciles à comprendre dans sa propre langue. Il souhaite créer un groupe accueillant où les gens pourront se connecter et rencontrer d’autres personnes atteintes de la dystrophie myotonique de la communauté de dystrophie myotonique, et savoir qu’ils ne sont pas seuls. Le lancement d’un groupe de soutien francophone permet à MDF d’élargir l’aide que nous offrons et de répondre aux besoins des personnes atteintes de DM dans le monde entier. 

Les bénévoles ont partagé que chaque fois que nous rencontrons une nouvelle famille francophone atteinte de DM, on nous pose la même question : existe-t-il un groupe de soutien en français ? Avez-vous des informations en français ? Le besoin est palpable et nous sommes heureux d’annoncer que le jour où nous pourrons dire « oui » à ces questions approche à grands pas.

MDF is excited to be launching a new International French Speakers Support Group in January 2025. This group will be our third international language group, and hopes to engage our community members around the world. Two veteran Support Group Facilitators, Sarah Berman and Julie LeBoeuf, are joined by a new volunteer, Marie-Claude Sauve, to launch this new support group. These community volunteers are ready to create space for new and old community members. 

When their families were diagnosed with DM, they didn’t know anything about the disease, and didn’t know where to go to learn more. Becoming facilitators allows them to find power in supporting others, contribute to change, raise awareness and support other families like their own.

Meeting four times per year, the International French Speakers Support Group hopes to create a space that allows the community to find relevant and easy to understand information, in their own language. 

The facilitators hope to create a welcoming group where people can connect and meet other people in the DM community, and know they are not alone. Launching a French Speakers Support Group allows MDF to expand the help we provide, and meet the needs of people living around the world and with DM. There are many French Speaking communities with high prevalence of DM, including in Quebec, and now, when community members ask “is there a support group we can go to?” we can say yes!

The first annual Myotonic Dystrophy In Motion Awareness Month took place in July 2024! With over 130 registrants from over 12 countries and 32 different US states, we are so thrilled to see the DM community’s excitement to get moving together. Throughout the month, MDF hosted four webinars designed for all activity and comfort levels, that followed weekly themes. These events engaged over 90 community members in educational and inspirational sessions about the importance of exercise, ways to exercise safely at home, how to connect with nature and ourselves while moving.

MDF offers a special thank you to all of our amazing panelists and presenters, the MDF Movement Committee, and our sponsor, Avidity Biosciences, for helping make this inaugural program happen! Attendee feedback shared gratitude to our movement experts, for creating fun and safe ways to connect and exercise at home, and providing different ways of modifying exercise to meet the changing needs and abilities of people living with DM. One participant shared “I loved the exercises we did together at the end of the session, and hearing the answers from [Dr. Lott] about exercise and DM”.

Missed out on attending our sessions live? Don’t worry, join over 300 community members who have watched our MDIM Awareness Month Programming on MDF’s Digital Academy!

Click here to learn more about the Myotonic Dystrophy In Motion program! >>>
 

*New* Exercising with Myotonic Dystrophy Infographic

Studies show that moderate exercise is safe and may help optimize function and maintain strength for individuals with myotonic dystrophy (DM)!

This one page summary sheet outlines ideas for finding motivation, monitoring your exercise, and adding movement to your daily life! Click here to download the Exercising with DM Infographic!

Please consult your doctor before attempting these activities! 

Download the Infographic!
 

Check Out Our Weekly Themed Events

This transformative series of webinars and classes are designed to educate and inspire individuals living with Myotonic Dystrophy (DM) and their communities. Discover practical insights, engage with experts, and embrace the power of movement to enhance your well-being.
 

Week 1: Come as You Are! - Stump the Doctor & Community Panel

Have questions about exercise and myotonic dystrophy? Wondering about strength training or how often you should exercise? Join our panel of experts featuring Donovan Lott, Pt, PhD, CSCS, University of Florida, alongside three MDF community members, Ryan Vogels, MDF Support Group Facilitator living with DM2, Margie Singleton, living with DM1, and Luke Bolt, living with DM1. Get ready to ask your burning questions and engage in insightful discussions about exercise and mobility with our knowledgeable panel.

Click here to watch the recording of our Stump the Doctor & Community Panel! >>>
 

Week 2: Little Things Count - Exercises for Everyday Life

Join Kristina Kelly, DPT, University of Missouri-Columbia, for a webinar focusing on incorporating small exercises into your daily routine. Learn about the importance of a balanced movement practice and discover simple movements that can enhance your overall well-being. (This session serves as an amazing companion to the MDF Exercise Guide for People Living with Myotonic Dystrophy.)

Click here to watch the recording of Exercises for Everyday Life! >>>
 

Week 3: The Natural World - The Benefits of Nature & Breathwork

Explore the connection between nature, wellness, and breathwork with Katy Eichinger, PhD, DPT, University of Rochester, and Payge Purdue, certified yoga and Qigong instructor. Discover the transformative power of mindfulness and breathwork practices to enhance your daily movement routines.

Click here to watch the recording of The Benefits of Nature & Breathwork! >>>
 

Week 4: Let's Keep it Going! - Virtual Zumba Class

Join Gina Many, PhD, Pacific Northwest National Laboratory, and Tina Duong, PhD, Stanford University, for an exhilarating Zumba class designed to celebrate the achievements of Myotonic Dystrophy In Motion Awareness Month. Whether you're a seasoned dancer or new to Zumba, this class is for you!

Click here to learn more about Dr. Many and Dr. Duong! >>>
 

The In Motion Buddy Network

Make new friends during Myotonic In Motion Awareness Month! Our In Motion Buddy System offers a chance to connect and collaborate with others in the DM community about your experiences and ideas on exercise and movement. Through a series of planned activities and conversation starters, you and your buddy will have multiple opportunities to interact throughout the month.

For each task you complete with your buddy, you will be entered to win a prize in our MDIM Awareness Month Drawing!

Buddies can be in-person or virtual and will be matched by their responses to the sign up form. While we hope you will connect with your buddy at least once a week, you are free to pick and choose (or modify!) any of our Buddy exercises and activities. 

If you have questions about the In Motion Buddy Network, please email MDF at info@myotonic.org. 

Limited Edition 2024 Awareness Month T-Shirt!

Only available to order through the end of July 2024! Stay tuned for next year's limited edition Myotonic Dystrophy In Motion Awareness Month T-shirt! Movement makes connections, and we’re excited to continue bringing the DM community together through weekly themes, action items, and resources. 

Additional Information

Questions? If you have questions about the 2024 Myotonic Dystrophy In Motion Awareness Month or need assistance, contact MDF at 415-800-7777 or by email at info@myotonic.org.
 

Participation Disclaimer

Before participating in any MDIM Awareness Month programming, it is important to consult with your physician or other qualified healthcare professional to ensure that exercise is safe and appropriate for your individual needs. The information provided in this exercise program is for educational and informational purposes only and should not be construed as medical advice or a substitute for professional medical expertise or treatment.

By participating in this exercise program, you acknowledge that there are inherent risks involved in any physical activity, and you voluntarily assume full responsibility for any and all risks. You agree to release, discharge, and hold harmless Myotonic Dystrophy Foundation and any contractors from any and all claims, liabilities, or damages arising out of your participation in the program.

If at any time during the exercise program you feel discomfort, pain, dizziness, or any other unusual symptoms, you should stop immediately and consult with a medical professional.

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.

Questions?

Contact MDF via email info@myotonic.org or via phone at 415-800-7777.

For Ami Mankodi, M.D., it was love at first sight. When she was in the fourth grade in Mumbai, India, she remembers seeing a picture of a brain in a book and knowing then that she wanted to be “a brain doctor,” not yet aware of the word “neurologist.”

"I looked at the organ, and I said, ‘Mommy, I want to become this doctor,’" said Dr. Mankodi. "Something struck, and there was no other option in my life."

Now a principal investigator at the National Institutes of Health’s (NIH) National Institute of Neurological Disorders and Stroke (NINDS) in Bethesda, Maryland, Dr. Mankodi has been involved in research that has helped shape a fundamental biologic and molecular understanding of myotonic dystrophy (DM).

Dr. Mankodi has participated in important advances in understanding critical questions about myotonic dystrophy, and these advances have pointed the way toward therapeutic approaches to treating the disease. But many questions remain unanswered about DM progression and how to best measure the severity and progress of a patient’s individual condition, questions she is working to answer today.

Finding Targets

Dr. Mankodi earned her medical degree from Grant Medical College in Mumbai, India, before performing post-doctoral work in the lab of Dr. Charles Thornton at the University of Rochester. After seven years in Dr. Thornton’s lab, she then completed a neurology residency at Johns Hopkins Hospital. The research she conducted with Dr. Thornton included the creation of a mouse model for myotonic dystrophy type 1 (DM1) and provided evidence that the disease was RNA-mediated. 

The genetic mutation driving myotonic dystrophy causes expression of RNA that contains expanded repeating code in the portion of the RNA not involved in the production of protein. The repeats are associated with both skeletal muscle degeneration and the diminished ability of the brain to communicate with muscles to relax after activity. One thing that Dr. Mankodi and her colleagues discovered was that an effect of these repeats was to reduce the number of chloride channels on the muscles. These channels are needed to receive electrical impulses that instruct muscles to relax and restore to a normal state after they have been constricted for activity. In simple terms, it is why someone who has myotonic dystrophy may find it difficult to open their hands after grasping an object, relax their jaw or tongue, or experience other muscle cramping symptoms of myotonia. 

The good news, according to Dr. Mankodi, is that it points the way to a therapeutic approach because it suggests researchers may be able to restore normal function with drugs designed to bypass errors in RNA, such as so-called antisense therapies that are in development today. 

“We didn’t even know 25 years ago where the gene defect was, and that was 100 years after the first clinical description,” Dr. Mankodi said. “In the last 25 years since gene discovery, we have come a long way to understanding the disease mechanism.”

Unanswered Questions

Despite advances that Dr. Mankodi and other researchers have made in the understanding of myotonic dystrophy, much remains unknown about the disease. A component of Dr. Mankodi’s research today is aimed at understanding how the disease progresses. Because there is wide variation in the severity of symptoms, the constellation of symptoms any one patient will develop, and the rate of progression of the disease, such an understanding is critical to improving treatments and developing therapies. A better understanding of the disease will help researchers establish meaningful endpoints to assess the effectiveness of potential therapies in clinical trials, and consistent ways to measure improvement or decline in those living with the disease. 

In 2011, MDF awarded funding to establish the first-ever Myotonic Dystrophy Clinical Research Network (DMCRN), research infrastructure co-led by Drs. Charles Thornton and Richard Moxley, III of the University of Rochester. The DMCRN was originally located at five academic institutions around the U.S. and was created in part to prepare standardized trial sites for potential therapeutics working their way toward human clinical trials. NIH is one of now eight medical centers participating in the network and Dr. Mankodi serves as a primary investigator. Her work there focuses on developing tools to measure the severity and progression of the disease. 

“We need to develop more tools and more community effort,” said Dr. Mankodi. “We are, as part of the clinical research network, trying to define the disease status, the disease burden, the disease progression and trying to identify reliable outcome measures that can be applied to therapeutic trials. Efforts are being made in this direction.”

As an example, Dr. Mankodi points to a recently-concluded study at six of the DMCRN sites to see how consistent measurements are in the same patient between three-month time points and between two sites. A new 500-patient study will launch this summer that will gather disease progression and other natural history information, as well as seek to identify genetic modifiers that scientists believe partially control the disease severity patients experience.

Dr. Mankodi is also working to develop tools to measure muscle strength and muscle relaxation time in the hands. At first, she and her team tried to do this with a glove but found it wasn’t a reliable approach because of different hand sizes. In a new tool, markers are placed on the hand and read by a computer using laser trackers. She said they have already developed such a device for the ankle. Dr. Mankodi and her team are also working to develop clinical and imaging biomarkers of pulmonary function. Through the DMCRN, they collected tissue and blood samples in one study to look at biomarkers over the course of time. More than 100 patients were enrolled in that study. 

But even with the unknowns, researchers are trying to decipher, Dr. Mankodi is optimistic about the potential of developing therapies to treat myotonic dystrophy. To get there, though, she believes collaboration will be critical. 

"We are still at very early stages, but the momentum is increasing and driving interest," she said. "It’s going to involve patients and patient support organizations like MDF, the [pharmaceutical] industry, researchers, and regulators. These are the key components, and we need to bring the pieces of the puzzle together. It’s community-wide action that will be needed, and that is exactly what’s forming the basis of the Myotonic Dystrophy Clinical Research Network. The steps are being taken."

Dr. Mankodi will speak at IDMC-11 in September 2017 at the upcoming biennial global conference of approximately 400 DM researchers. The International DM Consortium meeting brings together scientists, clinicians, associations and patients to accelerate clinical and fundamental myotonic dystrophy research. IDMC-11 will occur this year in conjunction with the 2017 MDF Annual Conference. Both events will be held in San Francisco, California.