Reflecting on the World Orphan Drug Congress USA 2025: A Glimpse into the Future of Rare Disease Treatment

Written by Kathryn Clemens, Community Program Coordinator

Last month, I had the opportunity to attend the World Orphan Drug Congress USA 2025 in Boston. The three-day event gathered over 2,000 rare disease stakeholders—biotech companies, government agencies, advocacy organizations, researchers, and patients—for conversations that left me inspired and energized about the direction of rare disease treatment and access.

For those unfamiliar, the World Orphan Drug Congress has been a vital meeting ground since 2011, focusing on improving the development and delivery of orphan drugs—medications for rare diseases that affect fewer than 200,000 people in the United States. The Orphan Drug Act of 1983 was a milestone in making these treatments viable by offering incentives such as market exclusivity, tax credits, and fee waivers. The Congress continues this mission by fostering innovation, collaboration, and policy evolution.

Below is a summary of key takeaways from the sessions I attended, along with insights from additional presentations and organizations that contributed to the broader conversation.

Michele Oshman, Senior Vice President and Head of Patient Advocacy at BIO

Policy, Pipeline, and the Patient Voice

Michele Oshman discussed the impact of today’s policy landscape on the rare disease pipeline. One major focus was the Orphan Drug Act and the Priority Review Voucher (PRV) program, which encourages small biotech firms to innovate and sell their developments to larger organizations that can carry them to market. Another key policy in the spotlight was the Orphan Cures Act, which seeks additional incentives and protections to prevent promising therapies from being abandoned. Visit Save Rare Treatments to learn more.

The Inflation Reduction Act was also mentioned in relation to rare disease treatments. While intended to reduce drug costs, some in the community are watching closely to ensure it doesn’t inadvertently hinder rare drug development.

Drug Repositioning, AI, and Patient Matching

Sessions on AI in rare disease research introduced tools for repositioning shelved or unapproved drugs by using algorithms to match them with appropriate patient populations. This innovative use of data science offers hope for rare diseases where traditional development timelines are too long or costly.

Drug Development: Then vs. Now

In the past, patients were often seen as “subjects.” Today, they are partners. The shift toward dialogue over surveys and understanding the full patient experience helps guide drug development with more relevant outcomes. One quote that stood out to me was:

“Strong communities make strong treatments.”

Industry partners are no longer just developers—they are facilitators, amplifiers, and collaborators.

Advances in Neuromuscular Research

Sessions on ALS and other neuromuscular diseases showed how citizen-driven research can shift paradigms. For example, EverythingALS developed a modular app that tracks symptoms like speech changes, food intake, journaling, and daily check-ins. These data points can transform the “care deserts” many patients face and bring real-world evidence into clinical settings.

Importance of Patient Databases

Databases allow researchers and clinicians to understand disease progression, patient diversity, and treatment efficacy. Building or contributing to one for MG could improve research, recruitment, and outcomes. Organizations like Global Genes via RARE-X and Picnic Health via AllStripes are making strides in creating research-ready data platforms for rare diseases.

Medicare, Medicaid & Coverage Gaps

A recurring topic across multiple sessions was the difficulty in accessing care, especially for Medicaid enrollees:

1. Inconsistent access to approved therapies

2. Unclear coverage policies

3. Administrative delays

4. Travel requirements

Organizations like Manatt Health are researching these gaps and promoting clearer policies and broader provider networks.

In states like Missouri and Kansas, biomarker testing is not covered, while Arkansas offers partial coverage. This inconsistency significantly impacts access to early and accurate diagnoses and should be addressed at the state level. Another key stat: 1 in 8 Medicare prior authorizations are denied. One-third are overturned on appeal. This tells us how essential it is to advocate for clearer processes and better education for providers and patients alike.

Clinical Trial Equity and Retention

One of the most moving panels I attended was on inclusivity in clinical trials, moderated by Raquel Cabo. It featured voices like Melissa Penn from Bayer, Jenifer Waldrop from the Rare Disease Diversity Coalition (RDDC), and Deborah Requesens from Sociedad Hispana de Enfermedades Raras.

Melissa Penn, Director of Patient Engagement R&D

Jenifer Waldrop, Executive Director of RDDC

Deborah Requesens, PhD Co-founder & President of SHER

The panel addressed how past trauma, trust issues, and communication gaps lead to:

• Patient attrition

• Fragmented feedback

• Poor trial retention

Their call to action: consider the whole person experience—from lived trauma to family dynamics—to truly improve outcomes.

Additional Themes from the Congress

In addition to the sessions I attended, several topics dominated the broader agenda:

Regulatory Innovations

Dr. Peter Marks of the FDA's CBER introduced initiatives like the START program, designed to reduce the time needed for regulatory meetings and to enable more real-time conversations between drug developers and regulators. These changes could especially benefit smaller biotech firms and rare disease communities (read more).

Real-World Evidence (RWE)

In the rare disease space, traditional trials can be limited due to small sample sizes. RWE, gathered from patient registries, mobile apps, and daily journals, helps bridge that gap and inform regulatory and payer decisions.

Global Market Access

International pricing and reimbursement policies continue to evolve. Access is not only about approval but also about demonstrating value. Payers are looking for outcomes-based data, and rare disease developers must be ready to share long-term benefits.

Ultrarare Drug Act

Many one-time or ultrarare treatments are being abandoned. A new Ultrarare Drug Act is being proposed for conditions affecting fewer than 2,000 individuals—a mere 1% of what qualifies under the Orphan Drug Act. For more, visit the Ultrarare Coalition (if available—this was proposed at the event).

Final Reflections

The 21st century of medicine is here—and it demands precision, personalization, and patient inclusion. Redefining disease by its cause rather than symptoms, using biomarkers as endpoints, and ensuring that every voice is heard in development discussions are all essential next steps.

As a representative of the MG community, I left Boston feeling that while we still face barriers, there is significant momentum behind innovation and inclusion. If you’d like to be part of these conversations, I encourage you to:

• Learn more about the World Orphan Drug Congress USA Conference Website

• Explore the ALS Insurance Navigator for appeal assistance: ALS.org Insurance Support

• Browse advocacy and research opportunities via Global Genes and EveryLife Foundation

• Review resources from the National Organization for Rare Disorders (NORD)

Let’s continue working together to ensure that everyone in the rare disease community—including those with MG—has access to the treatments and support they deserve.