Recap: 2025 RARE Drug Development Symposium
The 2025 RARE Drug Development Symposium offered a range of insights with a clear theme across the sessions: progress in rare genetic disease accelerates when patient advocacy groups (PAGs), researchers, and drug developers work together. Each brings unique expertise - patients and families provide lived experience priorities, researchers contribute scientific insights, and industry partners add resources and development pathways.
CureSHANK Chief Scientific Officer Ayan Ghoshal attended the symposium and shared his key takeaways:
Progress starts with PAGs.
Presenters shared that PAGs can help set research priorities that reflect crucial patient needs. By engaging the FDA early, knowing when to pivot away from less effective programs, and keeping efforts community-driven, PAGs can keep progress moving forward while avoiding wasted resources.
Therapeutic strategies require multiple perspectives.
Speakers emphasized the importance of multiple therapeutic approaches across different modalities, such as gene therapy, ASOs and small molecules. PAGs, drug developers, and researchers working together are developing funding strategies to increase probability of success and impact while mitigating risk, drug delivery issues, and patient tolerance challenges.
Data drives investment.
Clear assets, including natural history data, biorepositories, refined outcome measures, patient stories, and a strategic roadmap are essential to developing partnerships, and are most effective when built with input from all relevant groups.This shared evidence base reduces risk, attracts investment, and creates a stronger foundation for drug development.
Available treatments tip the scales for newborn screening.
Discussions indicated that newborn screening initiatives are widely supported only when safe and effective treatments exist. PAGs play a critical role in advocating for inclusion on screening panels, while researchers and clinicians validate interventions, and policy makers guide adoption. Progress relies on coordinated efforts across all stakeholders.
Clinical trials are stronger together.
PAGs play a vital role in designing patient-friendly trials by shaping protocols, validating endpoints, and preventing costly delays and misalignments by serving as a bridge between researchers, CROs, and biopharma. When all sides align on endpoints, trial sites, and regulatory engagement, trials advance with more efficiency and less burden on families.
Partnerships fuel progress.
Rare disease progress is not driven by a single group, but by the partnership of many. Informed and organized PAGs, working together with scientists, clinicians, and drug developers, are creating a development ecosystem where patient voices guide priorities, researchers advance science, and industry brings therapies to market.
The future of rare genetic disease research will be built on collaboration—because no one can do it alone.
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