Team members at PROMETRIKA are encouraged to stay abreast of scientific and regulatory advancements in biopharma by attending industry conferences. Earlier this year, I took this opportunity to attend the World Orphan Drug Congress 2025 in Boston. Some of the brightest minds in biotech, pharma, patient advocacy, and regulatory sciences met to discuss and brainstorm around one of healthcare’s most complex challenges: rare diseases. Urgency and innovation were highlighted through powerful keynote speeches, deeply personal fireside chats, and content rich panels focused on everything from patient identification to artificial intelligence in clinical care. I’d like to share some highlights from my experience and the sessions I joined.
DAY 1: Rethinking Innovation from the Ground Up
The opening keynote address spotlighted the untapped potential of shelved assets in pharma. Revisiting assets that were not appropriate for previous disease targets can fast-track treatments to patients in need – if coupled with bold policy incentives and data transparency within the industry. Transparency and collaboration among stakeholders are FDA’s objectives in establishing their Rare Disease Innovation Hub.
A notable theme throughout the day was a call for personalized care and how AI tools may assist in determining the best approaches for each patient. A moving fireside chat on disability and clinical trial inclusion underscored how trial design must accommodate the realities of rare disease patients and their caregivers. Harnessing patient engagement across the development lifecycle was recognized as not just an ethical consideration but scientifically and commercially smart.
DAY 2: Policy, Equity, and the Regulatory Horizon
The focus of the second day of the Congress was on the current regulatory landscape and the urgent need for reform to meet 21st-century rare disease needs. Representatives from the National Organization for Rare Disorders (NORD) and from biopharma companies discussed the systemic barriers still facing patient and innovators alike.
Speakers delved into the importance of regulatory frameworks that balance speed, safety, and affordability, and stressed the need for regulatory clarity on advanced therapies, especially gene and RNA-based interventions, which are reshaping what’s possible in rare disease treatment.
Legal and scientific experts discussed the challenges of global trial harmonization and real-world data integration. The consensus? We need more adaptive trial designs and cross-border regulatory alignment.
Evolving Policy Landscape: What’s Next for Orphan Drugs?
While these discussions were future-facing, they come at a time of significant flux in U.S. and global regulation. Some of the key changes currently impacting orphan drug development include:
• FDA’s evolving use of real-world evidence (RWE): The agency is expanding its guidance on RWE for rare diseases, encouraging its use in both pre-approval and post-marketing surveillance—especially critical for ultra-rare conditions where traditional trials may be infeasible.
• The ORPHAN Cures Act: This bipartisan U.S. bill seeks to incentivize companies to invest in ultra-rare conditions by extending exclusivity periods and offering new tax credits. Its progress is being watched closely across the sector.
• EMA’s Orphan Drug Regulation reform: Europe is reassessing its incentives, with proposals that could reduce market exclusivity in some cases unless unmet needs are demonstrably addressed. This could have ripple effects for multinational drug development strategies.
• Calls for international regulatory harmonization: With the rise of gene and cell therapies, industry and advocacy groups are pushing for mutual recognition frameworks across the FDA, EMA, and PMDA to reduce delays and duplication.
Final Reflections: Collaboration is the Catalyst
What resonated most from the Congress was the sheer power of cross-sector collaboration. Whether it’s pharma partnering with AI developers, regulators co-designing trials with patient groups, or the introduction of new platforms to support streamlined collaborations, innovation in rare diseases demands unity.
As the conference wrapped up, I was more convinced than ever that the future of rare disease treatment depends not just on scientific breakthroughs, but on breaking silos. With continued regulatory evolution and deepened partnerships, we can deliver hope—and therapies—to the 300 million people worldwide living with a rare disease.
PROMETRIKA has participated in rare disease clinical trials for more than a decade. The resultant expertise gives our Sponsors the confidence that we can successfully initiate and manage their critical trials.
