As we celebrate PPMD’s Duchenne Action Month inspired by World Duchenne Awareness Day, we are filled with gratitude for the supporters who have made our work possible. We continue to celebrate PPMD’s 30th Anniversary year, a milestone that is not just about the passage of time; it’s a testament to the unwavering dedication of our community and the remarkable progress we’ve achieved in the Fight for Every Future.

The growth this organization has experienced since 1994, was made possible because our community believed it could be. We are eternally grateful for our donors and partners who have never stopped believing in the future.

We are pleased to provide you with highlights from the year thus far. 

Research

• The Duchenne community recognized a significant milestone when the FDA expanded the label for ELEVIDYS and converted the accelerated approval to traditional approval for ambulatory patients. ELEVIDYS is currently approved to treat people with Duchenne who are at least 4 years of age and do not have antibodies to AAVrh74. People with certain DMD gene variants, including any deletion in exon 8 and/or exon 9, are not able to receive ELEVIDYS due to safety concerns. The indication in non-ambulatory patients is under the accelerated approval pathway and will require confirmatory studies to convert to traditional approval.In 2017, PPMD launched our Gene Therapy Initiative seeking to accelerate the potential of gene therapy as a therapeutic for Duchenne. Since the launch of the Initiative, PPMD has funded over $7 million in a variety of gene therapy and related approaches to several institutions, including Dr. Jerry Mendell’s work at The Research Institute at Nationwide Children’s Hospital, which led to the development of ELEVIDYS.

• The Duchenne community celebrated its 8th FDA approval with DUVYZAT™ (Givinostat), a histone deacetylase (HDAC) inhibitor indicated for individuals diagnosed with Duchenne muscular dystrophy from six years of age and older. DUVYZAT™ will be made available and marketed in the United States by ITF Therapeutics, LLC.  The drug works by targeting pathogenic processes to reduce inflammation and loss of muscle. DUVYZAT™ is the first nonsteroidal drug approved for Duchenne that is applicable regardless of the specific genetic variant. 
• PPMD and Duchenne UK announced the recipient of their Joint Call for Therapeutic Projects. Pediatric neuromuscular neurologist Professor Peter Kang, MD, from the University of Minnesota Medical School, will receive $500,000 for the project titled “Phase 1 clinical trial of myogenic progenitors for DMD.” The grant will support Dr. Kang and his co-investigators in evaluating the safety and tolerability of muscle progenitor cells for Duchenne muscular dystrophy. These cells, derived from human pluripotent stem cells, have shown promise in preclinical studies for their ability to regenerate damaged skeletal muscle.
• In addition to PPMD’s significant pre-clinical and academic research funding, the organization provides funding to biopharmaceutical companies through PPMD Venture Pathways, its venture philanthropy program. PPMD committed $500,000 in funding to Kinea Bio, Inc. (Kinea) through PPMD Venture Pathways. This commitment aims to address current limitations in gene therapy delivery and will advance the development of the company’s next-generation adeno-associated virus (AAV) mediated midi-dystrophin gene replacement therapy for the treatment of individuals with Duchenne. This product uses a virus with better muscle targeting than current AAV and would deliver a larger dystrophin construct. By enabling Kinea to complete critical studies needed to secure additional funding, we are helping to advance their investigational product to the clinic.
• The PPMD team, along with other researchers, began working on a qualitative study in 2022, aimed at understanding the barriers faced by Hispanic/Latina families specifically and underrepresented groups more generally to clinical trial participation in Duchenne. The article,  “Barriers to diverse clinical trial participation in Duchenne muscular dystrophy: Engaging Hispanic/Latina caregivers and health professionals,” was published this spring in the Orphanet Journal of Rare Diseases. The findings were eye-opening and will serve to inform the next steps in PPMD’s Diversity, Equity and Inclusion initiative. 

Registry 

• The Duchenne Registry added a new survey on Gene Therapy to collect data on who is receiving gene therapy and the circumstances around it. This type of data will be crucial in understanding the natural history of Duchenne and how those who have received gene therapy compare to those who have not received the treatment.
• PPMD continues to expand the EHR Study to Certified Duchenne Care Centers. We have completed integrations at five CDCCs; with four additional sites working through the technology integration. To date, PPMD has 70 patients consented and contributed their electronic health records to create a more robust DMD natural history registry. 
• Decode Duchenne recently celebrated 10 years of providing free genetic testing and counseling to Duchenne and Becker patients and families. The first patients were tested through Decode in December, 2013, and since then over 1,750 patients have received diagnostic testing through the program and over 1,450 patients have received carrier testing. 

Advocacy 

• March began with over 120 PPMD advocates heading to Washington D.C., for PPMD’s Advocacy Conference. This year’s ask to Congress was for members to co-sponsor the BENEFIT Act and to sign the FY25 appropriations letter, for continued funds for research. There were 26 states represented by our advocates and over 30 percent were new to the process. In response to these efforts, the Appropriations Committee has included the following in the FY25 budget language: 
  •  Level or increased funding for the Centers for Disease Control and Prevention (CDC) muscular dystrophy program ($8 million in the House, $9 million in the Senate)
  •  Level or increased funding for the Department of Defense (DoD) congressionally directed medical research program (CDMRP) for Duchenne ($10 million in the House, $12.5M in the Senate)
  • Language requests to the Centers for Disease Control (CDC), the National Heart, Lung, and Blood Institute (NHLBI) at the National Institutes of Health (NIH), and the Food and Drug Administration (FDA)
    • CDC language includes provisions covering the improvement of muscular dystrophy research and disease surveillance initiatives to monitor care outcomes for those with Duchenne. Additionally, the language requests that CDC provide a comprehensive report to be submitted to Congress on their plan for updating muscular dystrophy efforts.
    • NIH language that encourages the agency to support research that focuses specifically on cardiac issues that arise due to muscular dystrophy and the benefits of ventricular assist device-placement or a heart transplant. Heart failure is the leading cause for patients with Duchenne and Becker.
    • FDA language is focused on the standardization of approaches to collecting and analyzing patient experience data to inform clinical research design and regulatory reviews. The FY25 budget is not final yet, but we are optimistic given the approved language from the various committees.

• To wrap up the Advocacy Conference, PPMD held a Town Hall meeting where families shared their experiences and insights. The primary goal was to gather valuable input to inform PPMD’s advocacy efforts, particularly in interactions with the FDA on drug development. The meeting included panelists from FDA’s CBER and CDER Divisions, family members of and patients living with Duchenne, all at different stages, and a clinician. The meeting opened a dialogue on regulatory advocacy priorities, focussing on what outcomes are meaningful to families.
• In addition to our important federal initiatives, PPMD has been building our state advocacy program with 16 participants in a pilot of 8 states. We are training empowered, informed, and passionate local advocates to use their voices and train others in their local communities to do as well.  This program also increases PPMD’s local reach on advocacy, care, research, practical assistance, and access & coverage issues for the Duchenne community. These efforts have never been more important with the momentum building toward the addition of Duchenne to state newborn screening panels and the unique access issues faced as more therapies are approved and made available for Duchenne. 
• PPMD is proud to share that to date our state advocacy efforts have helped add Duchenne to the newborn screening panels of four states. New York, Ohio, Minnesota and Massachusetts have passed legislation to add Duchenne to newborn screening panels. While we navigate the state legislative process we are simultaneously working with our partners to compile additional evidence for review at the federal level by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). 

Newborn Screening

• PPMD funded a $250,000 grant to Dr. Bo Hoon Lee at the University of Rochester to support the development of a clinical research network for Duchenne babies identified through newborn screening in New York State (NYS). With the anticipated start of newborn screening in NYS later this year, there is an imminent need and unique opportunity to prospectively collect natural history and clinical outcomes data in these young patients. While outcome measures and rates of progression for children over age 4 are well understood, major gaps persist in trial readiness and evidence-based clinical care guidelines for the 0- to 3-year-old group. Dr. Lee’s project, referred to as Baby Duchenne, aims to establish a collaborative clinical network and database to enroll and prospectively follow all babies identified by newborn screening in NYS with genetically confirmed Duchenne. The database established in NYS is being developed collaboratively with providers from other states so that it can be shared with other states as their newborn screening comes online. This will ensure that we have consistent nationwide data collection for newborns no matter where they are born in the United States.
• At the beginning of June, PPMD convened a vital meeting of physicians, physical therapists, genetic counselors, data scientists, and other key opinion leaders to discuss the development of data infrastructure and care planning for newborns that screen for Duchenne through state mandated programs.  This meeting featured representatives from Ohio, Minnesota, and New York with the primary focus to ensure that best practices for data collection are established as Duchenne newborn screening is added to state mandated screens across the country.
• In November of 2023, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) voted to move this nomination package into evidence review. In May of 2024 the committee voted to delay the vote on adding Duchenne to the Recommended Newborn Screening Panel (RUSP) for up to one year. Currently, we are at a crucial stage of evidence review and it is imperative that we provide additional data to drive evidence to the committee. In order to do this PPMD is leading a first of its kind effort in Duchenne to conduct a comprehensive clinical data review with the hypothesis that early diagnosis of Duchenne leads to improved outcomes. This novel approach will rely on key clinicians and data experts in the field and specific data points from their longitudinal Duchenne patient data sets.
• Working with four CDCCs and a team at Research Triangle Institute, PPMD is looking to assess whether very early corticosteroid treatment (as defined as before age 4 years) initiation is associated with older age at loss of ambulation, and whether time of corticosteroid treatment initiation is associated with an improved disease trajectory as measured b 0y standard motor, pulmonary, and cardiac outcome measures. We anticipate a presentation of results early in 2025. 

Care 

• PPMD hosted the Duchenne Healthcare Professionals Summit in Sanibel, FL to kick off the year. Over the course of three impactful days, 300 healthcare professionals, researchers and industry partners collaborated, connected and shared knowledge to ensure that caring for individuals with the latest information and technology remains a constant priority. Fifty neuromuscular centers from around the globe were represented at this year’s meeting, enabling invaluable connection and collaboration among specialists with similar interests and goals. 
• Thanks to efforts in support of PPMD’s Cardiac Initiative and in collaboration with our expert Cardiologists Drs. Chet Villa, Linda Cripe and Deip Nandi, PPMD hosted the third meeting in our Cardiac Series this past May. This year’s meeting for cardiac care professionals fostered a deeper dive into the rapidly evolving landscape of approved therapy and post-gene therapy cardiac monitoring and lifespan cardiac care. Topics this year included pathology and imaging, cardiac monitoring in clinical trials, gene therapy and transplantation.  We plan to take these learnings into a new world of cardiac care, post-gene therapy care and leverage networks like ACTION and the DMDCCC (DMD Cardiovascular Care Consortium) to create a clinical trials collaborative to expedite the establishment of updated care guidelines, development of new therapies, and improve monitoring and care of individuals post-gene therapy. 
• In a rapidly moving field like that of Duchenne a new diagnosis can feel overwhelming with too much information available and no easy place to begin. PPMD’s Resource Center is regularly updated with new materials to make navigating it all a little easier. We recently updated the New Diagnosis and Early Care Guide for families just beginning their journey. We also created a personal care binder with templates for families to update and customize in order to be prepared in any emergent situation.
• Thanks in part to a sponsorship by the PJ Nicholoff Steroid Protocol,  PPMD developed a “DIY Care Binder” with materials that house important information regarding Duchenne/Becker care to help families navigate routine care and emergencies, as well as areas where personalized care information can be added. These binders were distributed at the Annual Conference and are available for order via the care resources page. 
• PPMD continues to work with our community of healthcare providers to ensure standardized Duchenne care for patients throughout the country. This year, we expanded our Certified Duchenne Care Center (CDCC) program with the certification of the clinic at Penn State Health Children’s Hospital in Hershey, Pennsylvania. This clinic serves approximately 50 Duchenne families. 

Engagement

• Our 30th Annual Conference took place in June in Orlando. It was our largest in-person conference yet with over 1,400 registrants including over 100 teens and adults with Duchenne or Becker. Together, we discussed the most relevant issues, challenges and opportunities, shared our collective triumphs and tribulations and celebrated three decades of progress together—in the most meaningful way—as ONE. The Conference began with a Pre-Con meeting for professionals focussed on Becker Muscular Dystrophy and ended with a community celebration of our 30th year. We also unveiled our 2025 meeting location. Join us in Las Vegas and look out for more registration details to come in the new year!
• We celebrated our true anniversary in April with a return to Cincinnati where it all began. PPMD Together launched our re-imagined regional family workshop series. The meeting began with a Friday reception and was followed by a full-day meeting focused on care, connection and the lived experience of Duchenne. We had approximately 130 attendees. We will continue with the second workshop for families on the west coast in Seattle, WA in September. 
• We are so grateful to our Race to End Duchenne participants who ran, walked, rolled and cycled in several big events during the first three quarters of the year, including the Walt Disney World Marathon Weekend, the Chevron Houston Marathon, the United Airlines New York City Half, and the TD Five Boro Bike Tour.  Thanks to their dedication and perseverance throughout the training and fundraising process, we’ve raised more than $700,000. We are currently recruiting for many 2025 races and are excited to see new runners continue to join the team and make a difference as we move into the fall. 
• The PPMD Connect program continues to serve the needs of our families in their local communities through educational programs, social gatherings, and by fostering a network of support. We’re expanding the program beyond geographic categories with the continued growth of the Siblings, Dads, Manifesting Carriers and Grandparents groups. 
• In an effort to increase diverse representation in our community, we have begun a meeting series entitled “Understanding the Needs of Diverse Families,” which meets monthly on various topics of interest within the community
• The Lighthouse Workshop series launched its spring session in February, with approximately 50  participants meeting weekly to connect and share. The relationships gained through this series continue to be an important outlet for Duchenne families, and while the meetings take place virtually, there was an in-person opportunity for all past Lighthouse participants to come together at this year’s Annual Conference. We will begin promoting the fall series this month. 
• The PPMD Adult Advisory Committee (PAAC) continues to grow, developing strong leaders within our patient community and beyond. The PAAC came together for their spring meeting in March, held in conjunction with the Advocacy Conference. They discussed their plans and priorities for the year, and participated in the conference sharing their stories with members of Congress. The PAAC is continuing to mentor tweens and younger teens through quarterly virtual socials, and the group played an important role in the Annual Conference leading the Teen and Adult track programming as well as an inspiring panel discussion on the main stage.