Agenda

• Pamela Gavin, CEO, NORD
• Special Video Message from Becky Quick of CNBC

Bayesian and adaptive approaches offer alternative ways to design and analyze studies when patient populations are extremely small. This session will frame how these methods differ from traditional trial designs and why they are increasingly considered in ultra-rare disease research, including their potential to support learning over time, reduce patient burden, and make more efficient use of limited data.

Panelists:

• Yuan Ji, Professor of Biostatistics, University of Chicago
• Kelley Kidwell, PhD, Professor of Biostatistics, Interim Associate Dean of Faculty Affairs, University of Michigan School of Public Health
• Olivia Morgan, Statistician, FDA

Placebo-controlled trials are often impractical or ethically challenging in rare disease settings. This session will explore approaches that use alternative comparators, such as within-patient comparisons or external data sources, and discuss how these strategies can be used to generate interpretable evidence while addressing feasibility, ethical considerations, and regulatory expectations.

Moderator: FDA Representative (invited)

Panelists:

• Oxana V. Crysler, MD, MHS, Clinical Associate Professor of Internal Medicine, University of Michigan, Rogel Cancer Center
• David Margolin, MD, PhD, VP of Clinical Development, uniQure
• Susana Zaph, Clinical Development Leader, Sanofi

Sustaining rare disease research requires funding models that account for small populations, long development timelines, and limited commercial incentives. This session will examine broad approaches to funding rare disease research and the roles that patient advocacy organizations, academic institutions, and industry partners can play across different stages of development.

Panelists:

• Michael Hund, CEO, EB Research Partnership

Nontraditional trial designs are being used across therapeutic areas to address heterogeneity, small sample sizes, and evolving scientific understanding. This session will provide an overview of nontraditional clinical trial structures, such as umbrella, basket, and pragmatic trial designs, highlighting their applicability to rare disease research and their potential to improve efficiency, generalizability, and evidentiary yield.

Panelists:

• Jaishri Blakeley, MD, Johns Hopkins University / EUPEARL
• Gwen Nichols, MD, Chief Medical Officer, Blood Cancer United
• Amy Nicole Nayar, PharmD, MS, Vice President, Medical Affairs, Lundbeck

For many rare diseases, especially those with strong biological rationale but limited clinical data, regulatory approaches may rely on alternative forms of evidence. This session will provide context on how concepts such as plausible mechanism and platform-based development are considered within the regulatory framework for therapies targeting small populations.

Panelists:

• Teresa Buracchio, Director, Office of Neuroscience, CDER, FDA
• Judy Stecker, Regulatory Affairs Leader, Former HHS

Drug development programs for ultra-rare diseases may be discontinued for reasons unrelated to scientific validity, including resource constraints or shifting priorities. Presenters will describe case studies of therapies that were abandoned for commercial or logistical reasons and later revived through academic leadership, public-benefit models, or through repositioning.

Panelists:

• Paul Ayoub, PhD, MBA, Founder and CEO, Rarity PBC
• Matthew Porteus, MD, PhD, Professor of Pediatrics, Stanford University

Drug repurposing seeks to identify new disease applications for existing therapies. This session will provide an overview of how repurposing approaches are being explored in rare diseases and why they may offer a pragmatic path to treatment development when traditional discovery and development models are not feasible.

Panelists:

• Kasha Morris, MEd, Co-Founder, TANGO2 Research Foundation

Director of the National Institutes of Health of the United States

Selecting appropriate endpoints is a central challenge in rare disease research, particularly when clinical outcomes are heterogeneous or poorly characterized. This session will explore how different data sources can inform endpoint selection and support endpoints that are clinically meaningful, feasible to measure, and interpretable for regulators and other decision-makers.

Panelists:

• Amena Fine, PhD, Assistant Professor of Neurology and Developmental Medicine, Kennedy Krieger Institute
• Amy Laster, PhD, Chief Scientific Officer, Foundation Fighting Blindness
• Amy Raymond, PhD, PMP, Executive Director, Therapeutic Strategy Lead, Rare Disease & Cellular and Genetic Medicines Worldwide Clinical Trials

Registries and real-world data sources are increasingly used to support multiple stages of rare disease research. This session will frame how these data assets can function as development platforms, informing natural history studies, clinical trial design, and evidence generation beyond traditional clinical trials.

Panelists:

• Mayowa Osundiji, MBBS, PhD, Medical Geneticist, Mayo Clinic
• Srilaskshmi (Sri) Raj, PhD, Assistant Professor of Genetics, Albert Einstein College of Medicine
• Theresa Strong, Director of Research Programs, Foundation for Prader-Willi Research

Decisions about coverage and access are influenced by the type and strength of evidence generated during and after clinical development. This session will examine how clinical and real-world data intersect with payer and coverage considerations, and why early alignment between development strategies and evidence needs is particularly important in rare diseases.

Panelists:

• Ravi Pathek, PhD, MBA, Director, US Medical Affairs, Takeda
• Margarita Valdez, ASGCT
• Danny Yeh, PhD, Vice President, Rare Disease, Center of Excellence, AESARA