Objectives:

Develop stakeholder consensus on rare disease clinical development topics.

Create briefing documents and community guidelines to meaningfully accelerate rare disease clinical development.

2025 Report:

37 experts from biopharma and patient advocacy convened at the 2025 Summit to draft the priorities of the rare disease clinical development community ahead of the upcoming PDUFA VIII reauthorization.

Download the Report

2026 Working Group A:

Evidence Standards Reform

Purpose:

To develop a practical, defensible framework for evidence generation in rare disease programs that holds up across regulators, payers, and geographies in the post–external-controls environment.

This working group exists because current evidentiary expectations for small populations are fragmented, inconsistently applied, and increasingly misaligned between approval and access.

Core questions this WG will aim to answer:

What evidence packages are realistically acceptable in small and ultra-rare populations today?
When and how can external controls, hybrid designs, and extrapolation be used without undermining credibility?
How should endpoints, biomarkers, and digital measures be selected and defended?
How should evidence be designed end-to-end, anticipating payer and HTA scrutiny, not just regulatory approval?
Where do AI-driven and advanced analytics meaningfully strengthen evidence, and where do they introduce risk?

Scope:

External controls and hybrid designs when randomization is not feasible
Endpoint modernization, including biomarkers and digital endpoints
Real-world evidence across the development lifecycle
Extrapolation strategies (cross-population, cross-age)
AI and advanced analytics as real evidence tools
Integrated regulatory + payer evidence expectations
Global (US/EU) evidentiary alignment challenges

Output:

A Rare Disease Evidence Standards Framework:

Decision-oriented, not academic
Explicit about tradeoffs and failure modes
Usable by sponsors, CROs, regulators, and payers

Positioned as consensus guidance.

Seeking Qualified Participants:

Regulatory science leaders (current or former)
Sponsor clinical and regulatory leads
Payer / access experts
Methodologists with real-world application experience.

2026 Working Group B:

Pediatric Trial Readiness Blueprint

Purpose:

To define what it means for a pediatric rare disease trial to be operationally, scientifically, and ethically ready, across ages, geographies, and care environments.

This WG exists, because pediatric trials fail not due to lack of intent, but due to misaligned measurement, unrealistic protocols, and underestimation of caregiver and site burden.

Core questions this WG will answer:

What are minimum readiness standards for pediatric rare disease trials?
How should fit-for-purpose measurement (COAs, PROs, ObsROs, DHTs) be selected and validated?
How should trials be designed for non-verbal and very young populations?
What operational models actually work across clinic, home, and local care settings?
How do newborn screening and sequencing pipelines change trial readiness requirements?
How can pediatric trials be designed to scale globally without collapsing under complexity?