Thanks to the commitment and generosity of each of you, Parent Project Muscular Dystrophy will invest more than $13 million this year into key programs and strategies to continue to effectively move the Duchenne landscape forward.

This continued support enables our essential work in reaching and educating patients and families, improving care and access to it, pursuing potential therapies aggressively, and further enhancing our regulatory strategy to support families by acting as a convener within the Duchenne and Rare Disease communities. 

We are thankful for our extended PPMD family of donors without whom none of this would be possible! Our community is thriving because of each of you! You remain steadfast in your commitment to end Duchenne and we are forever grateful.

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.

Research

• At the end of 2022, the Duchenne community raised almost  $1 million to support PPMD’s ongoing Cardiac Initiative and commitment to funding the Advanced Cardiac Therapies Improving Outcomes Network (ACTION), a learning health system focused on children and adult congenital heart disease patients at risk of heart dysfunction or with heart failure. PPMD has guaranteed $2 million to support this project over three years in addition to other work streams. We seek out and support research that will enhance our understanding of cardiac disease in Duchenne through natural history studies and research that can impact clinical care and drug development. Current investments include continued support to Dr. Beth McNally’s loop recorder study of older Duchenne patients and new support to Dr. Jon Soslow to validate microRNA and protein biomarkers of cardiac dysfunction.
• The PPMD team is incredibly grateful for the families who have shared their Duchenne and Becker experience with The Duchenne Registry over the years. The first families joined the Registry in October 2007, and we have been actively collecting and sharing data ever since to advance research and treatments for Duchenne, Becker, and carrier females. We are currently celebrating our 15 Year Anniversary, and in honor of this important milestone we are compiling a 15 Year Registry Report which will summarize the data we have collected over the years and highlight some insights we have gained from the data. The 15 Year Registry Report will be released this summer.
• Duchenne newborn screening (NBS) remains a priority, as the knowledge gained by this screening has the potential to significantly change the trajectory of care and therapy for Duchenne families. The path to newborn screening in Duchenne is multi-pronged and includes working towards inclusion on the Recommended Uniform Screening Panel (RUSP) at the federal level as well as individual state efforts. PPMD recently resubmitted the updated RUSP nomination package, with hopes for potential addition to the RUSP in 2024. PPMD is also supporting efforts in specific states to add Duchenne to their newborn screening through legislation or work with state NBS advisory panels.
• We currently have multiple sites across the country in various stages of implementing PPMD’s Electronic Health Record study. Our ultimate goal is to onboard all of the Certified Duchenne Care Centers (CDCCs) in order to capture real-world data from patients across our entire network. Our CDCC program provides a successful pathway to engage researchers/PIs and build buy-in at the clinic level. This real-world dataset will support the entire community by enhancing research, expanding clinical trials and study recruitment, and improving clinical care. Building a robust dataset for Duchenne, inclusive of real-world clinical and patient-reported data, is more critical now than ever before. With new treatments and therapeutic options nearing approval, we continue to engage with industry partners about the benefits of using PPMD’s Duchenne Outcomes Research Interchange, a state-of-the-art data warehouse, to combine disparate sources of data in one place to accelerate our understanding of Duchenne and move the research forward, faster.
• The Sarepta Therapeutic Biologics License Application (BLA) for SRP-9001 is under consideration for accelerated approval with the PDUFA date extended to the end of June. This is the first time ever a gene therapy has used an accelerated approval pathway at the FDA. SRP-9001 was derived from the Phase 1/2a trial in late 2017 at Nationwide Children’s Hospital that PPMD funded with a $2.2million grant. Sarepta also provided support to the trial through a separate research agreement with Nationwide Children’s, and exercised an exclusive option to license the program. PPMD’s grant provided incentive for Sarepta to help expand and accelerate this opportunity.
• PPMD just announced a collaborative funding effort with CureDuchenne and the Muscular Dystrophy Association to support  a one-year clinical study led by investigator Barry Byrne, M.D., Ph.D., Chief Medical Advisor, MDA and Director of the Powell Gene Therapy Center at the University of Florida to assess the safety and efficacy of efgartigimod alfa-fcab (Vyvgart) to lower AAV antibodies precluding DMD. The study will investigate whether Vyvgart has the ability to reduce AAV antibodies to levels compatible with safe and effective delivery of gene therapies in DMD patients. Positive results from this study may be applicable to the translation of AAV gene therapies for other neuromuscular diseases.

PPMD’s Venture Philanthropy Portfolio 

PPMD invests in early-stage biopharmaceutical companies as part of our Venture Philanthropy program to catalyze the development of novel therapies to treat Duchenne and Becker.

• PPMD made a $500,000 venture philanthropy investment in Myosana Therapeutics, Inc. to support the company’s continuing development and translation of a non-viral gene therapy delivery platform aiming to slow skeletal muscle degeneration and heart failure in Duchenne. An initial investment of $350,000 was made. 2021. This initial support helped Myosana generate important proof of concept data that led to this subsequent larger round of seed funding totaling $5 million for the development of the company’s program.
• PPMD’s $1M investment in Satellos Biosciences to de-risk their development program was recently leveraged into a $55M investment in the company.  Satellos announced new, non-clinical data this past February and we are hopeful for more positive news in the future.

Care

• PPMD’s Duchenne Healthcare Professionals Summit in January gathered over 350 healthcare providers, researchers, and industry partners from across the current 36 PPMD CDCCs and other neuromuscular programs from across the country for discussion, collaboration, and connection. This year’s Summit began with a dedicated focus on early care, emphasizing our efforts to expand newborn screening for Duchenne and the ongoing review of Duchenne by the federal newborn screening committee. Joined by members of the Duchenne research and care community, the Summit brought together leaders in the Duchenne field, ensuring that caring for individuals with the latest information and technology is a constant priority.
• PPMD held the 2023 Cardiac Care Workshop at the end of March in New Orleans. We convened over 80 clinicians, researchers, and industry partners to continue to expand our knowledge around the heart and Duchenne. As part of PPMD’s Cardiac Initiative, we work with the ACTION-DMD network to improve care for people living with Duchenne, Becker, and female carriers. This was the second meeting in the series. Our first Cardiac Care Workshop was held the year prior and kicked off PPMD’s commitment to funding the ACTION network.
• In April, PPMD sponsored a meeting with Parent Project Italy to discuss Duchenne Endocrine and Osteoporosis Care in an Ever-Changing Landscape. 40 clinicians from around the world attended the meeting in Rome. As new therapies arise in the Duchenne pipeline, it is critical that we understand the impact on each of the body’s systems, including the endocrine system and bone health. This two-day meeting was chaired by Pat Furlong (PPMD), Filippo Buccella (DPP aps) and Leanne Ward (Children’s Hospital of Eastern Ontario) focusing on emerging topics of interest to patients, researchers, and care communities.  Learnings from this meeting will be shared during a session at this year’s Annual Conference.
• PPMD’s Certified Duchenne Care Center program continues to grow. The program currently serves more than 4,600 people living with Duchenne and Becker at 38 Certified Duchenne Care Centers in 24 states and the District of Columbia. While the CDCC program has grown exponentially in the past year, many clinics are currently awaiting site visits or are in the certification pipeline. We hope to expand our reach even further, with the ultimate goal of bringing comprehensive, coordinated care to every single person living with Duchenne or Becker, regardless of where they live.
• PPMD’s Decode Duchenne sponsored genetic testing program continues to provide free genetic testing to patients and families throughout the United States and Canada. Our laboratory partner, Revvity Omics (formerly PerkinElmer Genomics), provides the most comprehensive testing available today including next generation sequencing of the DMD gene, targeted familial testing for known variants, neuromuscular gene panel testing, and RNA sequencing. We have now tested over 1,500 individuals for Duchenne and Becker. And just recently, we achieved another milestone in the Decode program by reaching over 1,000 women who have received free carrier testing through our program.
• A focus on the health of Duchenne carriers is increasingly important as we learn more about the prevalence and symptoms of dystrophinopathy experienced by girls and women in our community. PPMD continues to initiate and fund various projects to support this group to include a grant to the University of Pennsylvania to establish a clinic specific to the care of carriers of dystrophinopathy, with a goal of gathering data to drive the creation of care guidelines and establish the framework for a network of certified carrier clinics throughout the US. 

Advocacy

• In March, over 130 advocates from 39 states came together in Washington, D.C. for the first-ever hybrid PPMD Advocacy Conference and first conference back on the Hill since 2020. PPMD Advocates used their voices to discuss the FY24 allocation priorities and the value of signing on to the BENEFIT Act. One of the key elements of BENEFIT is the role of Patient Preference in the Benefit Risk Framework used by the FDA to evaluate potential therapeutic approvals. 
• On May 12th, the Advisory Committee to the Center for Biologics Evaluation and Research (CBER) voted in favor of supporting Accelerated Approval for SRP-9001. PPMD submitted a summary of our work with Duchenne UK, through which we conducted a scientific, rigorous study capturing the Duchenne community’s views on risk tolerance to gene therapy. In our written testimony to the Advisory Committee, this summary of unpublished data highlights the high risk tolerance of our community in exchange for a slowing of disease progression, a view we hope the agency will reflect on in weighing benefit-risk. We are also working diligently with our community partners through varied advocacy efforts to urge the FDA to exercise regulatory flexibility as they weigh the benefits and risks of SRP-9001 for all patients. 
• PPMD continues to provide support for families seeking assistance to navigate their access and reimbursement challenges. We have recently revamped the Insurance Access and Coverage Resources Center and State Specific Resources page and now have provided opportunities for families to work directly with PPMD’s Community Outreach Coordinator for specific support. The goals are to help families learn about different types of commercial coverage, understand eligibility criteria for state benefit programs, and develop self-advocacy skills related to accessing appropriate coverage based on their specific situation.
• PPMD continues to take a leadership role in the rare disease advocacy space. Currently, we are serving as the co-chair of the Everylife Foundation’s Community Congress Public Policy Committee, where we lead legislative priorities for a coalition of 300+ rare disease groups. We are expanding our work and involvement with more than 10 other coalitions of which we are members. These coalitions focus on areas such as disability policy, FDA transparency, telehealth access, newborn screening, and lab testing improvement.

Engagement

Connectivity and community are essential when living with Duchenne.  We acknowledge that support is not just for the individual with Duchenne, but that Duchenne affects the entire family and there is a need for that connection within peer groups. The below programs are flourishing and continue to grow with new members, conversation topics and accessible engagement options with a place for everyone to feel comfortable. 

• The PPMD Adult Advisory Committee now has 36 members representing teens and adults with Duchenne. They have been busy this year with the Advocacy Conference and in-person meeting in March, working on the Knight Hacks site with everyday tips and tricks for individuals living with Duchenne and Becker, various working groups, mentoring initiatives and planning the teen and adult sessions at the upcoming PPMD Annual Conference. 
• The Lighthouse workshop series for women caregivers promotes support for the Duchenne community by the Duchenne community.  We are building a network and a group that can continue to support each other after the PPMD facilitated sessions end.  We completed one pilot session of about 40 women and facilitated four more groups consisting of another 60 women this past spring.  The summer will be used for evaluation and planning before continuing in the fall.
• PPMD’s Connect groups continue to grow, enabling opportunities for Grandparents, Siblings, Teens and Tweens to find their support systems.  
• Recently launched “PPMD for You,” is a platform to schedule one-on-one counseling opportunities for families in need of expert advice and support.  The PPMD For You team is made up of several staff members with expertise in navigating neuromuscular care and services, and are available to help answer questions and navigate the concerns and decisions that are part of Duchenne.
• The 2023 fundraising season began with a return to Orlando for the Walt Disney World(R) Marathon Weekend, presented by State Farm. This year’s team had more than 150 runners and  raised over $300,000. Brian Denger was this year’s recipient of the “Make Every Day Count Award” created in memory of Danny Garofalo. Disney Marathon Weekend was followed by the Chevron Houston Marathon, United Airlines NYC Half, several smaller races and our most successful TD Five Boro Bike Tour team to date, with 40+ team members who raised over $135,000. We are excited for a busy summer and fall of new and returning volunteer-led fundraising events, PPMD is grateful for the support of all our DIY and Race to End Duchenne program participants. 
• The “Community Chats Series” launched live sessions via zoom with the Care Team in four geographic regions. The first hosted conversation featured emergency care/ crisis management information. The second in the series is related to school planning and additional sessions are in the works for later this year to include travel, Durable Medical Equipment and insurance coverage.
• This year’s End Duchenne Tour has stopped in Little Rock, St. Louis and Long Island with more than 20 unique families attending, at least half of which were new to PPMD. After the summer, we will engage with communities in the Chicago and Denver areas. We continue to make updates to the agenda and source feedback from our families and presenters to ensure the best programming possible. 
• PPMD’s Annual Conference will take place June 29th -July 1st in Dallas, Texas. We will offer a hybrid format once again, with over 700 in-person attendees expected and another 100 or more logging in virtually. This year’s conference will feature research presentations, care breakouts, keynote speakers, social events, the Resource Fair and so much more. We will also offer various tracks for teens and adults with Duchenne and Becker Muscular Dystrophy and siblings as well as fun activities for our younger attendees in Kids Track. Registration is still open for those who wish to join us.

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!