September 29, 2022 / Community

Thanks to you PPMD continues forward in all areas of support

As Duchenne Action Month comes to an end, PPMD continues to celebrate the actions you take that make us strong. Thanks to the unwavering support of our community and incredible donors, we continue to forge forward leading the fight to end Duchenne.

Keen focus remains on addressing gaps in Duchenne care and research by investing in diverse and timely projects, initiatives and leaders across the space. In addition to announcing one of our largest research investments at the 2022 Annual Conference, we continue to invest in projects and initiatives of all sizes – moving promising opportunities forward.

Our trained advocates remain larger en force than ever before and we have just started to scratch the surface on what mental health means to each family member living with Duchenne.

Below you will find a snapshot of PPMD’s investment and program highlights so far this year. While the work that lies ahead remains plentiful, our accomplishments remain unrivaled – thanks to each of you.

Thank you for taking action to support our fight to end Duchenne, not just in September, but all year long.


  • During our Annual Conference in June, PPMD announced a $2 million grant to be awarded to the Advanced Cardiac Therapies Improving Outcomes Network (ACTION), a learning health system focused on pediatric and adult congenital heart disease patients at risk of heart dysfunction or with heart failure. As part of PPMD’s ongoing Cardiac Initiative, the grant will prioritize optimizing care and improving outcomes for those living with Duchenne-related cardiomyopathy, and support the critical expansion of ACTION’s efforts to create the largest multicenter database on Duchenne cardiac care practices and outcomes to date. The need for this project was evident as we reviewed the learnings from PPMD’s spring meeting on Cardiac Care in Duchenne. This meeting convened expert cardiologists, neuromuscular professionals, representatives from governmental health agencies and Industry partners for critical conversations around outcome measures, success in clinical trials and the need for standardization in Duchenne cardiac care across the life span.
  • Electronic Health Records (EHR) from consented patients have begun to flow into a data mart in our Duchenne Outcomes Research Interchange environment – creating a repository that houses clinical and patient reported data from citizen scientists that can help further improve care standards and a better understanding of outcomes for patients based on interventional and therapeutic decisions made. We are consenting patients at initial sites and we are actively working to expand across our network of Certified Duchenne Care Centers (CDCC) in the coming years. This study will build upon PPMD’s Duchenne Registry, creating the largest and most robust Duchenne database worldwide.
  • In February, PPMD began an 18-month study in collaboration with Duchenne UK, the DMD Hub, and RTI International to explore attitudes towards gene therapy and gene editing from adults with Duchenne, parents and caregivers of children with Duchenne, and clinicians. The study will examine the tolerances, risks and uncertainty for taking part in this new area of research. Findings from the survey will inform discussions by regulators, pharmaceutical companies and clinicians with the goal of ensuring that decisions about gene therapy are based on patients’ preferences. It will also highlight areas where we can collectively provide support to the patient community as gene therapy and gene editing strategies move forward.
  • In December of 2021, our community raised over $500,000 to provide supplemental funding to one of the Wellstone Muscular Dystrophy Cooperative Research Centers for 2022 and beyond. Your generous contributions are hard at work. As a result of PPMD’s funding, this Wellstone Center is better equipped to continue its important work in understanding the role of gene therapy on the heart, identifying anti-inflammatory and anti-fibrotic drugs that work synergistically with newly produced dystrophin, interrogating intermittent steroid usage on inflammation, and developing non-invasive biomarkers for tracking disease progression.
  • Thanks to the support of our donors at the end of 2020, we were able to launch our Duchenne Protein Mapping Project. The Principal Investigators from the University of Leiden and University of Florida worked together to establish parameters to evaluate individuals as slow or fast progressors from their respective natural history studies. Longitudinal samples from those who met the criteria were then sent to SomaLogics to generate proteomic datasets from their proprietary 7000 protein screening array. The SomaLogics protein discovery platform enables us to examine blood and urine and screen for thousands of proteins at once, helping to unlock a Duchenne-specific protein map. The data has now been transferred back to the universities who are working alongside an AI-based drug discovery company to begin analysis. We look forward to the initial read out of the data and what we may learn.
  • PPMD’s Duchenne New York State Newborn Screening Pilot was completed in September of 2021, and provided PPMD with the necessary data to submit the nomination of Duchenne to the Recommended Uniform Screening Panel (RUSP). PPMD led the submission to the RUSP in late June and we hope to learn more about the progress of the review by year end. This is a pivotal milestone in the process to identify individuals with Duchenne as early as possible. Early detection will provide children born with Duchenne the opportunity to receive early therapies in the future.
  • The Duchenne Registry continues to grow and has assisted in recruitment for over 100 trials and studies since inception. Seven unique research studies and seven unique trials have been recruited for this year alone. Over 5,500 patients and caregivers have contributed data and reliance on an App has helped bolster activity and updates from engaged users.


  • PPMD has certified five new centers this year, bringing the total number of Certified Duchenne Care Centers to 33. Due to the challenges of the pandemic, our certification process was delayed, with several centers queued in the pipeline. Since the start of 2022, we have welcomed the following centers to our network: Monroe Carell Jr. Children’s Hospital at Vanderbilt, Billings Clinic, UPMC Children’s Hospital of Pittsburgh, St. Louis Children’s Hospital and Helen DeVos Children’s Hospital.  PPMD continues to take steps to ensure that all people with Duchenne receive comprehensive care, including certifying additional centers to enable more families to access excellent care.
  • PPMD provided the University of Pennsylvania’s Center for Inherited Cardiovascular Disease with a $50,000 award to support the development of a dedicated carrier clinic for women with dystrophinopathy – the first support of its kind issued by PPMD. In addition to providing direct care to these women, the team at the University of Pennsylvania will work to develop and implement standardized care practices, aiming to improve the long-term physical and emotional health for female carriers. PPMD hopes this pilot clinic will facilitate the development of other similarly structured clinics following the CDCC program model, with the goal of creating a network of care centers for women who don’t currently have a center designed with their unique needs in mind.
  • In March, we convened over 80 expert cardiologists, key neuromuscular providers, members of the FDA and NIH, and industry partners to discuss cardiac care in Duchenne. This meeting was followed by our first-ever Cardiac Town Hall at PPMD’s Annual Conference in June. We recognize the need to continue the critical conversations around outcome measures, success in clinical trials and the need for standardization in Duchenne cardiac care across the life span. This meeting also led to the announcement of the $2 Million grant to the ACTION Network and a reaffirmed focus on cardiac care in Duchenne.
  • Last November, PPMD convened a Duchenne and the Brain Meeting – a workshop of psychologists, neurologists, psychiatrists, developmental pediatricians, behavioral specialists and researchers from around the globe to discuss what we know, what we don’t know and how to fill in the gaps regarding the psychosocial, emotional, behavioral, and learning issues associated with Duchenne. Through the PPMD Brain Project and other ongoing work, we hope to standardize the tools used to evaluate these issues.
  • PPMD’s Decode Duchenne program continues to provide free genetic testing (diagnostic and carrier) to families throughout the United States. This year we added a new test, RNA sequencing on muscle biopsy, to assist with diagnosing patients with either no known genetic mutation or a variant of uncertain significance.


  • PPMD’s patient advocates conducted their second virtual Hill visits in March of this year during PPMD’s Advocacy Conference. While we hoped for an in-person conference, the ability to increase participation and empower our Duchenne community was something PPMD is extremely proud of. We witnessed first time advocates and the parents of newly-diagnosed children find their voices and share their stories. We had over 260 advocates attend, representing 39 states.
  • We are grateful to our Duchenne advocates as well as our champions in Congress for supporting our efforts. This year’s Duchenne appropriations request (for FY’23 funding) was supported by a bi-partisan list of over 100 members of Congress.
  • Led by PPMD, the first-ever patient advocacy-initiated Duchenne Guidance was submitted to the FDA in 2014, with FDA finalizing their own Duchenne Guidance in 2018. Since 2014, the field has evolved and so has our understanding and learnings about what to do differently moving forward. This year, PPMD will submit an updated Guidance to the FDA to ensure that trials are run as efficiently as possible as we take the learnings from the past and apply them to the future. The process of updating the Guidance has involved over 100 stakeholders including patients, caregivers, clinicians, researchers, drug companies, genetic counselors, and regulatory experts. This version will also include sections in Gene Therapy and Cardiac Research, which were not included in the 2014 iteration.

Education and Engagement

  • Our community re-united at our 28th Annual Conference in Scottsdale, AZ, this summer. Over 700 participants joined in person and virtually at our first-ever hybrid conference. The four-day conference included research presentations, care breakouts, a Cardiac Town Hall, keynote speakers, a Kids Track and a Sibs Track, programming for teens and adults with Duchenne and opportunities for networking and connection, including the Resource Fair, Poster Session and closing reception. PPMD continues expanding our one-on-one counseling sessions at the Annual Conference. In addition to behavioral support, physical therapy and genetic counseling, we included a Respiratory Therapist to provide individual attention to our families in need. The Annual Conference has always been a cornerstone event for the Duchenne community and this year’s did not disappoint!
  • The End Duchenne Tour is back on the road, convening families to provide resources, practical information and a sense of community. There are a significant number of underserved communities in our country, where certified care and clinical research information are not available. By bringing families together in their home communities we are able to provide them with more of these resources. Our 2022 Tour included Alaska and Hawaii (virtually), Atlanta, and Pittsburgh. The second half of the year will bring us to Detroit and Indianapolis, and virtually to Boise.
  • With the pandemic exacerbating the mental health challenges many Duchenne families face, PPMD developed its Power of Us Summit Series. With three initial meetings in the series, we brought together members of the community to discuss topics related to mental health and family relationships, with the goal of developing tools and resources to help enhance daily life. One of the most important factors was the “safe space” created by engaging certain segments of our community separately. The three meetings focused on caregivers, siblings and teens and adults living with Duchenne.
  • PPMD’s Connect program continues to expand, with 29 groups currently. We added groups in Alabama and Missouri/Kansas in 2022, and welcomed several new Connect Coordinators to existing groups. To continue meeting the needs of our community our Sibs Connect group, launched last year, has grown with more participants and in-person meetings that have been vital in offering much needed support to this demographic. We’ve also begun regularly convening a group for grandparents and extended family members, providing a unique opportunity for them to interact with others in similar positions.
  • The PPMD Adult Advisory Committee (PAAC) continues to advocate and work toward better opportunities for teens and adults living with Duchenne. There are 25 individuals on the PAAC. Following the Annual Conference, the group has begun working with staff from Cincinnati Children’s Hospital to develop a needs survey regarding transition to adulthood, championing a new project to collect hacks to be shared via the Knight Hack Project, and a partnership with Treat-NMD to advise Industry partners on clinical trial practices.
  • In 2020, our Newly Diagnosed Family meetings transitioned from a yearly gathering at the Annual Conference to a quarterly meet up via Zoom. We have reached roughly 100 new families each year since transitioning to the new format. We are able to connect with families sooner, provide them with resources and connections earlier in their journeys with Duchenne, and have eliminated barriers to participation by providing easy access via the web.
  • We also recognize two fundraising milestones this year. Coach to Cure MD celebrated its 15th Anniversary this September. We continue to be grateful for the support of the AFCA, as well as the teams, families and coaches who participate each year to make Coach to Cure a successful signature PPMD event. And in June, we celebrated the legacy of Angela Knight, with Jumping Jack, the Final Round. This year’s golf outing, the 19th one, raised more than double what the outing raised in year’s past. There are several large events scheduled throughout the remainder of the year and we look forward to sharing significant achievements via our social media pages.

Thank you for your continued support

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

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