
PPMD recently convened over 360 healthcare professionals, researchers, and industry partners, including representatives from the FDA, NIH, CDC, and international representatives in one room to discuss the latest updates in dystrophinopathy care and research at the 2025 Duchenne Healthcare Professionals Summit. Key topics of the meeting included:
Lessons Learned in Gene Therapy
The Summit kicked off with a focus on navigating gene therapy and the experiences of clinicians from around the country with both commercially approved therapy and those in clinical trials. After an introductory presentation on lessons learned since the expanded label for ELEVIDYS, the audience dove into a panel discussion around different models for multi-disciplinary collaboration in the delivery of gene therapy across institutions to demonstrate how different models can achieve excellent outcomes. They also heard about consensus recommendations for cardiopulmonary monitoring post gene therapy administration and learned from peers how to navigate the management of adverse events.
Approved Therapies
With eight approved therapies for Duchenne, attendees participated in discussion around challenges and considerations in developing and using combination therapies for Duchenne. Topics included safety, efficacy, ethical principles, and data gaps in treatment outcomes. With emerging therapies and a robust clinical trial pipeline, clinicians also shared their experience navigating and supporting families on making choices for treatments now and in the future.
Care Throughout the Lifespan
Throughout the Summit, PPMD also focused on care throughout the lifespan, including the importance of newborn screening and early care. PPMD’s efforts have led to four states adding Duchenne to their newborn screening panel, enabling earlier diagnosis and intervention while alleviating some of the family emotional and financial burdens. Discussions focused on the upcoming RUSP vote and efforts to standardize guidelines for equitable early intervention services for all individuals with Duchenne and Becker.
There were discussions around the importance of creating a model of care for adults, as well. PPMD was thrilled to sponsor 30 adult care providers in the dystrophinopathy space to attend this meeting and participate in these important discussions as the Duchenne landscape evolves and the care needs change as individuals transition into adulthood.
Developing Clinical Trials That Work
To round out a packed agenda, the closing session explored the “why”s of clinical trial design, led by an introductory presentation by Dr. Craig McDonald. Dr. McDonald’s presentation was then followed by a panel discussion exploring careful selection of clinical trial endpoints, the utility of the NSAA, and surrogate biomarkers like dystrophin expression, muscle biopsy, and the use of MRI. The critical partnership between regulators, industry partners, and clinical investigators was emphasized as a key aspect of careful selection of outcome measures and thoughtful clinical trial design to best detect change over time and set clinical trials up with the highest likelihood of demonstrating substantial change.
Looking Ahead
The PPMD team is eager for the year ahead! Throughout 2025, key leaders will come together to collaborate as we update the next iteration of Duchenne care guidelines, leveraging expertise across disciplines and institutions to continue to advocate for the best, most up-to-date care for all individuals living with Duchenne and Becker. We look forward to sharing progress with the community—including updates from ongoing PPMD care programs and meetings—at the 2025 Annual Conference in Las Vegas, Nevada from June 19-21. We hope to see you there!