This Duchenne Action Month, PPMD is recognizing the strength of our community as we work to ensure that people with Duchenne thrive in adulthood. Thanks to your continued investments, our loved ones are living longer, stronger lives full of possibilities. Our community thrives because of you. Below you will find a snapshot of PPMD’s investment and program highlights, made possible because of your support. 

CARE

We are proud of the creative and collaborative efforts of our Care team and Duchenne professionals across the country to expand the focus of Duchenne care this past year. 

• The PPMD team continues to support the community throughout the evolving pandemic with our dedicated COVID-19 Resource Center, patient and caregiver surveys, webinars, and opportunities to connect with one another. PPMD experts have developed a list of recommendations for the community and provided clear information on navigating the vaccination process. 
• While the pandemic forced us to cancel our 2020 PPMD Duchenne Healthcare Professionals Summit, we pivoted to offer a novel opportunity for cross collaboration within our Certified Duchenne Care Center network. PPMD has provided $300,000 in additional grant funding to collaborative projects for CDCCs to engage in inter-institutional work addressing issues throughout the lifespan of Duchenne. 
• While the physical progression of Duchenne has been documented extensively, psychosocial issues faced by people living with Duchenne have been largely neglected. PPMD has embarked on a multi-faceted project with Arkansas Children’s Hospital, Massachusetts General Hospital and Nationwide Children’s Hospital to develop and implement use of a new neurobehavioral screening tool, understand provider and parent perspectives on access to psychological care, and convene expertise that will help to fill gaps in prevalence, assessment and management of these issues. 
• We also continue to focus on female carriers and manifesting females with our Carrier Study at Nationwide Children’s Hospital.  The goal of the study is to provide the best health care for carriers of the disease-causing gene that potentially threatens their own well-being. 
• In collaboration with Jesse’s Journey, PPMD awarded $172,000 (CAD) in support of a two-year Clinical Fellowship in Duchenne Endocrinology and Bone Fragility.  The award will sponsor the fellowship of Dr. Kim Phung under the guidance of Dr. Leanne Ward, Professor of Pediatrics and Research Chair in Pediatric Bone Health at the University of Ottawa. 
• Decode Duchenne continues to be the most comprehensive sponsored genetic testing program for Duchenne and Becker. Female carrier testing was added to the program three years ago, and we continue to test higher numbers of females each month. This summer we added RNA sequencing to the Decode program, to help those individuals with a variant of uncertain significance or no known variant in the Duchenne gene. Our partner laboratory, PerkinElmer Genomics, is one of only a few laboratories in the country to perform this testing. We now have three precision medicine companies supporting our Decode Duchenne program. 

 

RESEARCH

PPMD continues to prioritize funding for Duchenne research and will invest over $3.5 Million this year.

• In August we announced a $350,480 programmatic investment in Myosana Therapeutics, Inc., to support the company’s early-stage development of a non-viral gene therapy delivery platform, capable of delivering full-length or microdystrophin transgenes, aiming to slow skeletal muscle degeneration and heart failure in Duchenne. This type of early stage industry investment allows companies to complete critical studies needed to advance investigational products to the clinic, while also providing the potential to create a financial return for PPMD that can then be reinvested into additional Duchenne and Becker research programs in academia or industry. 
• In response to a decrease in federal funding, PPMD has increased our commitment to further support the important work of The UF Wellstone Muscular Dystrophy Cooperative Center (MDCRC) with a 12-month bridge grant.  PPMD provided $31,500 to supplement Dongsheng Duan, PhD, at the University of Missouri School of Medicine to support his Department of Defense funding to continue exploring critical safety questions with gene editing. 
• Thanks to a successful holiday campaign last December, the Duchenne Protein Mapping Project is underway. We will bring together 10 years worth of clinical data from Leiden University and the ImagingDMD study at the University of Florida to analyze blood and urine collected during these studies. This cutting edge proteomics work will help to identify and map circulating proteins to further define how Duchenne progresses. This may unlock answers about which therapies people living with Duchenne will respond to best. 
• We continue to address the challenges in Gene Therapy regarding neutralizing antibodies, redosing and access for those further along in progression. Last year we launched the Joint Research Grant Call with Duchenne UK in order to identify research projects that can target the immunological challenges associated with gene therapy. In January 2021 we awarded Dr. Kanneboyina Nagaraju $350,000 to explore repurposed and novel therapeutic agents to block the immune system from recognizing AAV. This strategy could lead to lower doses being required for gene therapy delivery and potentially allow for redosing in patients by preventing the formation of antibodies at the time of delivery. 
• The Duchenne Registry continues to grow with new registrants joining our smartphone app platform every month. We continue to make updates to the app, and we are working with our vendors to launch a web platform in the near future. In addition, we have launched our EHR Integration Pilot and we have contracts signed with one clinic site (Arkansas Children’s CDCC) and contracts are in progress with two other CDCC sites. We plan to have EHR data flowing into the Duchenne Outcomes Research Interchange before the end of 2021. 
• PPMD’s New York State Duchenne Newborn Screening Pilot is ongoing at multiple high birth-rate hospitals in the state.  The pilot began in October of 2019 and will continue screening babies through September 30, 2021.  Thus far, the pilot has screened more than 34,000 babies and identified 4 boys with Duchenne/Becker and 1 female carrier.   

 

ADVOCACY

PPMD continues to be the leader in patient advocacy for rare disease, and it is because of each of you that our work with members of Congress, federal agencies and regulators has paved the way for many other disease types to model our efforts. 

• This year marked the 20th anniversary of the passage of the MD-CARE Act, and our Virtual Advocacy Conference resulted in the highest attendance in PPMD advocacy history, with 435 advocates representing 43 states. Advocates participated in over 300 virtual meetings with their local representatives. 
• The goal of this year’s Advocacy Conference was to secure an increase in appropriations funding and to garner support for the BENEFIT Act. We secured a record high 122 signatures from members of Congress on the FY22 appropriations letter. 
• We requested an increase from $6 million to $8 million for Muscular Dystrophy related programs at the Centers for Disease Control (CDC) and an increase in   funding from $10 million to $12 million for the Department of Defense (DOD) Duchenne research program (CDMRP). 
•  The BENEFIT Act builds on prior laws and will make sure patient engagement information is fully considered as part of the FDA benefit-risk framework, by     requiring FDA to disclose how they use or incorporate patient experience data in the review of new therapies. 
•  This year we will invest over $250,000 to update our community-led Guidance, originally submitted in 2014, to provide the FDA with an updated structure for drug development including a new section dedicated to Gene Therapy. Since the guidance was published, more than 48 biotech and pharmaceutical companies have included Duchenne in their pipeline. The community has experienced five approvals, with a robust pipeline of potential therapies in development.  In addition to our Community Advisory Board, we have also added a Pharmaceutical Industry Advisory Board this year.
  

EDUCATION AND ENGAGEMENT

With the pandemic continuing to impact in-person gatherings, we’ve focused on virtual offerings to keep our community connected. To that end, we have connected with more new families than ever before, and have focused additional initiatives on underserved communities. 

• Over the past year, our End Duchenne Tour has “visited” several communities throughout the United States, reaching many families who might not have been able to attend an in-person event. 
•  Our 22nd Virtual Annual Conference was a huge success and brought our community together to learn, to listen and to connect. The virtual format enabled greater reach to families who would otherwise be unable to attend due to cost or travel. We are proud to report that 1,711 families and professionals tuned in for the four-day conference. 
•  PPMD launched the Duchenne Professionals Masterclass, a module-based, self-paced online learning opportunity available to the CDCC network, academic institutions, researchers, industry partners, and more to fill the need for access to relevant, engaging continuing education and training curriculum for a wide variety of learners, spanning from new-to-Duchenne clinicians to veteran experts in the field. More than 15 continuing education credits for physicians, nurses, and allied health professionals are available through the curriculum. We’ve had over 300 users participate to date, including 100 Industry professionals and over 200 clinicians. Course offerings designed specifically for educators launch this month as well. 
• Building upon the Duchenne Professionals Masterclass, PPMD was proud to launch the new Duchenne Educators Masterclass. We have created content to educate and empower teachers, school-based therapists, counselors, aides, and administrators to better understand and educate their students with Duchenne. This information, which is a video-based companion to our Education Matters Guides, is presented in three age-specific comprehensive courses to give your academic team the tools they need to better serve your child both in and out of the classroom. 
• This year a Sibs Connect group was formed to provide a safe space for siblings of individuals with Duchenne to connect and find support in one another. The group is run by siblings, and  is geared toward teens and adults with about 30 members and growing. The Sibs Connect group offered our first ever Sibs Track during our annual conference, with sessions for both siblings and parents. 
• PPMD’s Adult Advisory Committee (PAAC) is working together to elevate the lives of individuals living with Duchenne and Becker through mentorship, outreach, and education. Their members hold monthly meetings, have developed an app to increase communication, created by-laws for the group, and have begun a mentoring program for tweens and younger teens. 
• PPMD just launched the Living Duchenne Podcast bringing together community voices to talk about navigating the Duchenne experience. This interactive format has been met with positive response and will feature various guests for each episode. 

Care, research, advocacy, education and engagement are all vital in the fight to end Duchenne. Give today to help PPMD continue the fight!