Summary of the Rare Trials Summit

Author: Dr. Raymond A. Huml, Vice President, Rare Disease Strategy, Sciensus 

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The Rare Trials Summit in Boston, held on September 9 & 10, 2025, was the inaugural event driven by Rare Disease Research, an organization 100% dedicated to conducting clinical research, accelerating the development of safe and effective treatments, and providing rare disease patients with access to innovative investigational therapies. The summit was organized in partnership with Gooseberry Research, a company specializing in decentralized clinical research solutions. 

The summit brought together leaders, researchers, and advocates in the field of rare diseases to discuss the latest advancements, challenges, and opportunities in clinical trials. The event was marked by a shared commitment to progress, innovation, and most importantly, to patients. 

On September 8, during a pre-conference workshop, 40 attendees gathered to discuss and summarize feedback for the FDA’s upcoming eighth re-authorization cycle of the Prescription Drug User Fee Act (PDUFA), which will govern the FDA’s drug review funding and processes for fiscal years 2028-2032. The workshop was led by Annie Kennedy, Chief of Policy, Advocacy & Patient Engagement from the EveryLife Foundation for Rare Diseases, along with Drs. Raymond Huml (a veterinarian, biopharmaceutical executive and father of two children living with FSHD) and Edward Smith (a pediatric neurologist from Rare Disease Research with extensive experience treating patients living with FSHD – as well as a world renown muscular dystrophy clinical trials expert), and Pat Furlong (a nurse and caregiver to two boys with DMD as well as a world renown muscular dystrophy clinical trials expert), among others. The feedback collected will not only be summarized and provided to the FDA but is also planned to be published. 

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Keynote Address by Raymond A. Huml, MS, DVM, RAC 

On Day 2 of the conference, Dr. Raymond A. Huml, Vice President of Rare Disease Strategy at Sciensus, delivered a keynote address that resonated deeply with the audience. Dr. Huml shared his personal connection to FSHD, as two of his children, Meredith and Jonathan, live with this progressive disease. This personal experience has driven his dedication to rare disease research and the commercialization of rare disease products. 

Dr. Huml highlighted the significant strides made in the field of rare diseases, particularly in the development of cell and gene therapies. These innovative treatments have the potential to address the root causes of genetic disorders, offering hope for diseases like FSHD. He expressed optimism that within five years, a disease-modifying treatment for FSHD would be available on the market. 

Innovations in Rare Disease Clinical Trials 

Dr. Huml’s remarks also emphasized several key innovations shaping the future of rare disease clinical trials:   

• Artificial Intelligence (AI) and Machine Learning: AI is revolutionizing every stage of the clinical trial process, from study design to participant recruitment and data analysis. AI-driven insights are streamlining drug selection and improving the accuracy of diagnoses. 

• Real-World Evidence (RWE): Over 85% of pharmaceutical companies now use RWE to inform trial design, regulatory submissions, and post-market surveillance. RWE helps understand how therapies perform outside the controlled environment of a clinical trial. 

• Precision Medicine and Genomics: Advances in next-generation sequencing, gene editing, and gene therapies are revolutionizing rare disease research. Early-stage gene therapies for FSHD are now moving into clinical trials. 

• Adaptive and Biomarker-Driven Trial Designs: These designs allow for modifications based on interim results, making studies more efficient and ethical. 

• Digital Health and Decentralized Trials: The adoption of decentralized clinical trials, leveraging telemedicine and remote monitoring, has increased access and reduced patient burden. 

Acknowledgments 

Dr. Huml acknowledged the contributions of Dr. Eddie Smith – who played a crucial role in diagnosing and treating his children. Dr. Smith was also a member of the RTS Steering Committee, providing valuable insights and guidance throughout the summit. 

Additionally, Dr. Huml recognized Pat Furlong, the founder and first CEO of the patient advocacy group, Parent Project Muscular Dystrophy. Her efforts led to the only FDA guidance ever promulgated by a patient advocacy group in the US. Her presence at the summit underscored the importance of patient advocacy in driving research and shaping public policy. 

Attendance and Participation 

Mark Stone, CEO of the FSHD Society, and Anna Gilmore, Senior Director of Advocacy & Education of the FSHD Society, attended many of the sessions and took detailed notes. Their active participation highlighted the importance of collaboration and information sharing in advancing rare disease research. 

Conclusion 

The Rare Trials Summit underscored the importance of collaboration, innovation, and patient-centricity in advancing rare disease research. With committed biopharmaceutical industry leaders and an FSHD biopharmaceutical executive caregiver attending and presenting at the Rare Trials Summit, the future of rare disease clinical trials looks promising. The summit served as a reminder that behind every statistic and protocol, there are real families, like those living with FSHD, longing for progress and hope.