PHARMExcel engages in key discussions at the 21st WORLD Symposium for rare disease research

PHARMExcel, a leading UK specialist in clinical trial management, played an active role at this year’s WORLD Symposium, the 21^st global event for rare disease research, held in San Diego from February 4-7, 2025. CEO and Founder, Yvanne Enever, was at the heart of crucial conversations, contributing insights on the evolving regulatory landscape and the critical role of people-centric clinical research to advance treatments for rare diseases.

Now in its 21st year, WORLDSymposium is both the oldest and the largest annual international gathering of lysosomal disease experts from around the globe.

Contributing to the future of rare disease research

The WORLD Symposium is a pivotal gathering for the rare disease community, bringing together global experts to discuss emerging research, innovative therapies, and the regulatory pathways that ensure safe and effective treatments reach patients faster. As a respected industry leader, Yvanne Enever actively participated in discussions that addressed key hurdles in clinical trial design, regulatory complexities, and the importance of collaboration between sponsors, CROs, and regulatory agencies.

Hear from Yvanne Enever (CEO at PHARMExcel) as she shares her personal highlights from the WORLD Symposium.

“The conference was exceptionally well-structured, with platform sessions featuring four impactful presentations followed by insightful Q&As. This format really facilitated rich discussions and there was definitely an openness to knowledge sharing.

Some personal highlights for me included:

• Promising clinical trial data in Fabry disease was presented: So, we heard about the latest findings from the ongoing Phase 1/2 STAAR trial, which is evaluating ST-920, and the FACTS trial, investigating the safety and efficacy of autologous stem cell transplantation (ASCT) using LV vector-mediated gene therapy. Both trials demonstrated significant potential as long-term treatment options and also showed a favourable safety profile.
• Key debates on disease management took place: It was encouraging to hear discussions focusing on:
  • The importance of prompt disease management and early intervention.
  • Determining the right time to start enzyme replacement therapy (ERT) for patients.
  • Improving patient experiences with ERT, particularly in managing infusion-related reactions.
  • Taking a holistic approach to patient care, emphasizing regular monitoring and surveillance for those on ERT.
• Posters outlining cutting-edge research: The high-calibre scientific posters presented throughout the conference showcased promising advancements in emerging treatments, which could offer new hope for rare disease patients. The entire exhibition hall certainly came alive during these sessions and I really felt inspired by some of the authors achievements.
• Reconnecting with partners and clients: It was great to network with many of our collaborators and clients and re-connect on our shared goals, and equally it was great to engage in meaningful conversations with future partners about trial delivery.

My message to our clients and partners:

The FDA session was, as expected, a major highlight, providing valuable insights into gene therapy development, rare disease clinical research, and regulatory advancements.

Key takeaways included:

• The challenges facing gene therapy development, such as:
  • Manufacturing limitations, including scalability and reproducibility issues.
  • Clinical development timelines, with lengthy approval processes impacting patient access.
  • Regulatory differences across global markets, requiring careful navigation.
• Encouragingly, the FDA is committed to streamlining regulatory pathways through initiatives such as the Rare Disease Hub, which aims to:
  • Accelerate gene therapy approvals.
  • Promote coordinated regulatory reviews.
  • Foster collaboration and information-sharing to enhance patient access.

I think this will certainly pave the way for continued progression in this area and hopefully we will see other regulators following suit.

My final message

The WORLD SYMPOSIUM 2025 re-affirmed to me the power of collaboration in advancing rare disease research. The dedication of scientists, clinicians, regulators, and industry leaders is certainly driving progress, and PHARMExcel remains committed to playing a pivotal role in delivering high-quality clinical trials for rare diseases that bring new hope to patients worldwide.

I look forward to continuing our partnerships and contributing to the future of rare disease treatment and want to thank everyone who made my first WORLD Symposium conference an enriching and inspiring experience! “

If you would like to learn how PHARMExcel could accelerate the set up and progression of your clinical trials please contact us today.