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.

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.

MDF staff recently attended the 2017 annual meeting of the American Academy of Neurology, in Boston, MA. Here are highlights from that meeting.

Clinical and histopathological findings in myotonic muscular dystrophy type 2 (DM2): retrospective review of 49 DNA-confirmed cases.
Bhaskar Roy, Qian Wu, Charles Whitaker, and Kevin Felice.

A better understanding of the natural history of DM2 is essential to the design of interventional clinical trials. This poster reviewed clinical profiles of a cohort of 49 confirmed DM2 cases seen over 24-years at Beth Israel. Proximal lower limb weakness was the most predominant symptom, although weakness ranged from absent to severe. Myotonia, grip strength, and FVC also showed considerable variation. Approximately half of study subjects had cataracts.

Evaluation of postural control and falls in individuals with myotonic dystrophy type 1.
Katy Eichinger, Jill R. Quinn, and Shree Pandya.

Clinical trial endpoints that measure parameters meaningful to patients will be necessary for registration trials in myotonic dystrophy (DM1). This poster presented an assessment of postural control and self-reported falls in a cohort of 34 DM1 subjects, studied over a 12-week observational period. Postural sway measurements in DM1 subjects differed significantly from norms and showed good test/re-test reliability. None of the postural measures used were predictive of fall status, although this may be due to the small sample. Further evaluation of postural status may yield reliable, clinically meaningful clinical trial endpoints.

Identification of dysregulated musclin expression and elevated atrial natriuretic peptide levels in adult and congenital myotonic dystrophy.
Donald McCorquodale, Katie Mayne, Brith Otterud, Diane Dunn, Bob Weiss, and Nicholas Johnson.

Understanding tissue-level molecular changes in DM can guide biomarker development as well as identify novel therapeutic targets. This poster addressed two components of a pathway that mediates response to exercise. Musclin expression, an upstream regulator of atrial natriuretic peptide (ANP), increased in skeletal muscle of congenital myotonic dystrophy (CDM) and DM1, accompanied by increases in ANP clearance receptor (NPR3) and ANP. Disregulated musclin/ANP signaling may be linked to weakness and exercise intolerance in CDM and DM1.

Correlation between MRI cerebral white matter changes, muscle structure and/or muscle function in myotonic dystrophy type 1 (DM1).
Cheryl Smith, Peggy Nopoulos, Richard Shields, Dan Thedens, and Laurie Gutmann.

Understanding any linkage between CNS and skeletal muscle changes in DM1 may provide insights into putative biomarkers and clinical trial endpoints. This poster presented pilot data on potential CNS contributions to skeletal muscle structure and function in a DM1 cohort. Data show correlations between an MRI measure (global cerebral fraction anisotrophy—a measure of white matter abnormalities) and both MRI measures of lower limb muscle structure and a lower extremity tracking task (a measure of functional weight bearing movement). The authors concluded that these data suggest that CNS changes in DM1 play a role in neuromuscular functional deficits.

Borderline CNBP CCTG expansions in myotonic dystrophy type 2 in over 16,000 specimens analyzed in a clinical laboratory.
Elise Nedzweckas, Rebecca Moore, Marc Meservey, Tara McNamara, Nicholas Tiebout, Zhenyuan Wang, Sat Dev Batish, and Joseph Higgins.

The frequency of DM2 expansions in the pre-mutation range (CCTG repeat length of approximately 177-372) is unknown. This poster from Quest Diagnostics utilized PCR, PCR repeat-primed, and Southerns to determine CNBP CCTG expansion lengths in 16,253 samples. The frequency of ‘borderline’ repeats was 0.97%, a value larger than in previously published studies. The potential for repeats in this borderline range to expand to pathologic lengths is, as yet, unknown.

Genetic markers of myotonic dystrophy type 1 (DM1) and Duchenne muscular dystrophy (DMD) in human urine.
Layal Antoury, Ningyan Hu, Leonora Balaj, Xandra Breakfield, and Thurman Wheeler.

Availability of a non-invasive biomarker to track target engagement/modulation of candidate therapeutics would be valuable to any DM clinical trial, and elimination of muscle biopsies would be critical for trials in pediatric CDM subjects. The platform presentation reported analyses of exosomal RNA in blood and urine of DMD, BMD, and DM subjects. Serum showed no differences between DM1 and controls. Several splicing event alterations known to change in skeletal muscle were not detected in urine. But, at least 10 transcripts were differentially spliced in urine that followed patterns seen in skeletal muscle and thus showed potential as non-invasive biomarkers. The source of differentially spliced transcripts in urine was thought to be the kidney or other urinary tract cells.  The group is working to correlate the pattern of splicing events detected in urine with phenotypic changes in DM1 patients.

Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 distal and proximal muscles.
Giovanni Meola, Laura Valentina Renna, Francesca Bose, Barbara Fossati, Elisa Brigozi, Michele Cavalli, and Rosana Cardani.

Metabolic dysfunction, including insulin resistance and increased risk of type 2 diabetes mellitus are characteristic of DM1 and DM2. While the insulin receptor (INSR) gene is known to be mis-spliced and links to the DM metabolic phenotype, other insulin signaling pathway components may be involved. This platform presentation presented data on insulin signaling pathway changes in DM1 and DM2 muscle biopsies. DM muscle biopsies showed increased fetal INSR isoform and altered expression and phosphorylation of selected proteins in the IR signaling pathway was seen in DM1 subjects. These effects were more pronounced in proximal versus distal muscles. The authors suggest that profiling of changes in INSR signaling pathways markers might emerge as a biomarker for clinical studies and trials in DM.

Increased EEG theta spectral power in polysomnography of myotonic dystrophy type 1 compared to matched controls.
Chad Ruoff, Joe Cheung, Jennifer Perez, Saranda Sakamuri, Emmanuel Mignot, John Day, and Jacinda Sampson.

Excessive daytime sleepiness and fatigue are hallmarks of DM—development of clinical endpoints to reliably evaluate these symptoms will help drive clinical trials. This poster presented data characterizing EEG spectra from nocturnal polysomnography in DM1 vs. controls. DM1 patients showed increases in wake after sleep onset and increased theta power in stage 2, stage 3, and all sleep stages combined when compared to control. EEG spectral power is being further evaluated as a putative biomarker.

"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

Each year dozens of MDF families across the country find creative ways to raise awareness and funds for Care and a Cure. We sincerely thank them for the incredible hard work and passion they bring to these events, and deeply appreciate the much-needed funds they raise!

We’ve shared a few of their stories below so you can help us say thank you, and perhaps find yourself inspired by one of them to sign up for a grassroots event of your own!

The Esparis-Kuglers Go the Extra Mile(s)

Sprinting into 2017, former MDF Humanitarian Award winners David Kugler and Dr. Belen Esparis again brought together a team to run the Miami Marathon to raise funds for MDF. More than 20 friends and family members crossed the finish line, raising over $10,000 together for Care and a Cure! Check out their story and fun photos (below).

Asher Adleberg, Fundraiser Extraordinaire

February grassroots campaigns include a sixth birthday event for Asher Adleberg, a young boy in San Diego. Asher told his parents he wanted to help find treatments for his best friend, MDF community member River Jensen, and asked for donations to MDF in lieu of birthday gifts for himself—what an amazing young man! If you’d like to donate, click here and write "Asher and River Birthday Campaign" in the gift dedication space.

Cards and Crafts in Kansas

This February also includes an annual fundraising event presented by the Bormann family of Kansas. Each year, the Bormanns gather friends, cards and crafts for their annual Poker and Pintervention party which raises funds for MDF. Wondering what a Pintervention is? The 3rd Annual Poker and Pintervention Party gives friends, family and colleagues a chance to get creative in support of DM. Some will complete a DIY product selected by Kelly, as a group, while others test their luck and (their poker face) at the game tables. A silent auction will raise additional funds. Visit their event page to find out more.

St. Patrick's Day Shenanigans

On St. Patrick's Day this year, two different groups will channel the luck of the Irish to raise awareness and funds for MDF. Community member Edibell Stone teams with the annual Church Hill Irish Festival in Richmond, Virginia, every year, featuring MDF as a beneficiary and bringing in thousands of dollars to support DM care and research programs. In Victoria, Texas the Christie family and friends host an annual Shenanigans Festival at their local pub, celebrating creative art and music while supporting MDF programming.

The Tough Mudder Returns

This May, Team Addison is back and stronger than ever for Philadelphia's Tough Mudder. Ten friends and colleagues of the Evans family have signed up to get tough and raise funds focused on finding treatments for myotonic dystrophy.

These are just some of the amazing grassroots fundraisers working on behalf of Care and a Cure for myotonic dystrophy. You too can get involved—it can be as simple as turning one of your hobbies and ideas into fundraising event—and we can help. Contact MDF to learn more: 415-800-7777 or info@myotonic.org.

And thank you, from all of us at MDF, for your incredibly important work driving Care and a Cure for families affected by myotonic dystrophy!