Scientific Workshop

What is the Scientific Workshop Series?  

The one-day workshops explore case studies, good practices, and gaps in evidence, with the goal of identifying actionable recommendations for advancing diagnostic, regulatory, access or public health policy. Previous workshops have explored clinical trial design, advanced recommendations for the use of surrogate endpoints in rare disease therapy development, developed a proposal for a rare disease center of excellence at the FDA, and examined the lessons learned during the early days of the COVID-19 pandemic that can apply to future rare disease diagnostic and therapy development. 

2026 Scientific Workshop

“Making What Matters Count: Advancing Patient-Centered Rare Disease Therapy Development Methodologies, Tools, and Knowledge Management”

May 12, 2026 at the National Press Club, Washington DC

Scientific Workshop Goals

• Assess the regulatory pathways, guidance documents, and policies available for medical product development in rare diseases to identify benefits, areas of opportunity, and unmet need.
• Identify roadmaps (resources, guidance, and policy needs) to translate distinct case studies into regular practices in rare disease regulatory science topics representing barriers to successful product development.
• Identify concrete actions to support greater dissemination of information and knowledge management to enhance consistency in approaches to rare disease product evaluation.
• Identify concrete actions to inform policy and legislative opportunities for the rare disease community to address identified gaps.

Scientific Workshop Background 

The regulatory environment for the development of therapies for rare diseases has undergone significant changes over the past two decades. Numerous regulatory pathways have emerged, recognizing the need for trial designs tailored to address rare disease trial complexities while still ensuring regulatory gold standards of safety and efficacy are upheld.

To support the use of these regulatory pathways by sponsors and stakeholders, key guidances have been published, new infrastructure has been established within the FDA and across the ecosystem, and mechanisms for enhancing decision-making — such as the emergence of patient focused drug development — fostering the inclusion of patient experience data.

In 2021, the RARE Foundation hosted a series of four virtual “PFDD Rare Disease Guidance Compendium” roundtables, convening nearly 100 leaders to consider the application of 20 FDA guidances across four lifecycle stages of medical product development for rare diseases. This led to the publication of the “Guide to Patient Involvement in Rare Disease Therapy Development,” in 2022. The Guide connects patient-focused medical product development policy to the challenges and opportunities present across all stages of the development and delivery of a rare disease therapy .

In the years since the Guide was released, the FDA has created new regulatory infrastructure dedicated to rare disease product development, including the creation of the Accelerating Rare Disease Cures Program in 2022, the Rare Disease Coordinating Council, pilot programs such as the Rare Disease Endpoint Advancement Program, and, most recently, the creation of the Rare Disease Innovation Hub. Additionally:

• 3 PFDD guidances have been finalized;
• New guidance documents on clinical trial design, the use of real-world evidence, the application of the accelerated approval pathway, and more have been published;
• 5 pilot programs have been initiated to improve rare disease regulatory science ; and
• 12 FDA initiatives have been launched.

In the last 1-2 years, the agency continued to release new guidance documents, programs, and pathways that can inform the approaches to rare disease therapy development if properly understood and put into practice. However, it is not yet understood the extent to which these guidances and programs can be applied to the diverse circumstances guiding medical product development across rare disease communities.

The application of these guidances and programs can shape the prospects of rare disease therapy development, drive investment into one area and out of another, and determine how patient advocacy organizations allocate precious resources. The answers to how the available guidances, programs, and pathways can be applied will differ across the 10,000+ rare disease communities. Factors such as population size, therapeutic modality, disease characterization, extent of diagnostic delays, age of onset, and others, have led to some rare disease communities having greater success in leveraging FDA’s regulatory flexibility.

Considering the evolution and the extent of changes in the FDA’s regulatory programs, infrastructure for rare diseases, and the volume of new guidance documents, this Workshop will identify actionable solutions that help inform policy, regulatory, and scientific priorities of the RARE Foundation. Given the impact of the shifts in the regulatory landscape due to the implementation of Patient Focused Drug Development, the conversations at this workshop will also serve as a resource to help inform additions to the Guide to Patient Involvement in Rare Disease Therapy Development — a widely used resource that helps stakeholders incorporate patient experience data into therapy development and regulatory decision making. Enhancing this guide is essential to reflect new FDA programs, other guidance documents, and emerging best practices, ensuring that patient input remains credible, actionable, and aligned with current regulatory expectations.

Questions about Scientific Workshop?

Contact our Policy Team at policy@rareadvocates.org.

Thank you to our 2026 Scientific Workshop Sponsors