Agenda

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.

Moderator: Edward Neilan, MD, PhD, Chief Medical and Scientific Officer, NORD 

Panelists:

• Yuan Ji, PhD, 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, a NORD Rare Disease Center of Excellence 
• Olivia Morgan, PhD, 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: Amy Comstock Rick, JD, Director of Strategic Coalitions, FDA Rare Disease Innovation Hub

Panelists:

• Oxana V. Crysler, MD, MHS, Clinical Associate Professor of Internal Medicine, University of Michigan, Rogel Cancer Center, a NORD Rare Disease Center of Excellence 
• Wonyul Lee, PhD, Senior Statistical Reviewer, CDER, FDA
• David Margolin, MD, PhD, Vice President of Clinical Development, uniQure, Inc.
• Susana Zaph, PhD, Senior Director, Head of Quantitative Systems Pharmacology -US, 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.

Moderator: Tracey Sikora, Vice President of Research and Clinical Programs, NORD

Panelists:

• Michael Hund, MBA, CEO, EB Research Partnership
• Matthew S. McCoy, PhD, Assistant Professor, Medical Ethics and Health Policy, University of Pennsylvania, Perelman School of Medicine, a NORD Rare Disease Center of Excellence
• Nicole Paulk, PhD, CEO, Founder, President, Siren Biotechnology

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.

Moderator: Annette Bakker, CEO, Children’s Tumor Foundation

Panelists:

• Jaishri Blakeley, MD, Professor of Neurology, Neurosurgery and Oncology, Johns Hopkins University, a NORD Rare Disease Center of Excellence
• Gwen Nichols, MD, EVP, 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.

Moderator: Julia Vitarello, Founder & CEO, Mila’s Miracle Foundation 

Panelists:

• Teresa Buracchio, MD, Director, Office of Neuroscience, CDER, FDA
• Michelle Mellion, MD, Chief Medical Officer, Clinical Development and Strategy Advisor; former CMO, EveryONE Medicines
• Lowell Schiller, JD, Nonresident Senior Scholar, USC Schaeffer Center, a NORD Rare Disease Center of Excellence; former Principal Associate Commissioner for Policy, FDA
• Judy Stecker, Founder, Wheeler’s Warriors; Patient Advocate; Former Deputy Chief of Staff, HHS
• Timothy Yu, MD, PhD, Associate Professor of Pediatrics, Harvard Medical School, Boston Children’s Hospital, a NORD Rare Disease Center of Excellence

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.

Moderator: Edward Neilan, MD, PhD, Chief Medical and Scientific Officer, NORD

Panelists:

• Paul Ayoub, PhD, MBA, Founder and CEO, Rarity PBC
• Terry Pirovolakis, Founder & CEO, Elpida Therapeutics 
• Matthew Porteus, MD, PhD, Professor of Pediatrics, Stanford University, a NORD Rare Disease Center of Excellence

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.

Moderator: Tracey Sikora, Vice President of Research and Clinical Programs, NORD 

Panelists:

• Heather Stone, MPH, Health Science Policy Analyst, FDA
• C. Lee Cohen, MD, MBA, Medical Officer, CDER, FDA
• Sarah Fuchs, MD, MSCI, Medical Officer, CDER, FDA
• Kasha Morris, MEd, Co-Founder, TANGO2 Research Foundation
• Savannah Latimer, Clinical Research Assistant, Division of Emergency Medicine, Children’s National Hospital, a NORD Rare Disease Center of Excellence
• Maurice Leary, Children’s National Hospital, a NORD Rare Disease Center of Excellence
• Natasha Shur, MD, Medical Geneticist, Professor of Pediatrics, Children’s National Hospital, a NORD Rare Disease Center of Excellence

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.

Moderator: Craig Lipset, Co-Chair, Decentralized Trials & Research Alliance; Clinical Innovation, Buffalo Initiative

Panelists:

• Gabrielle Conecker, MPH, Executive Director & Co-Founder, Decoding Developmental Epilepsies
• Gerald F. Cox, MD, PhD, FACMG, Consultant, Gerald Cox Rare Consulting, LLC.; Staff Physician in Genetics, Boston Children’s Hospital, a NORD Rare Disease Center of Excellence
• Amena Fine, MD, PhD, Assistant Professor of Neurology and Developmental Medicine, Kennedy Krieger Institute, a NORD Rare Disease Center of Excellence
• 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.

Moderator: Angela Waanders, MD, MPH, MS, Section Head, Neuro-Oncology, Ann and Robert H. Lurie Children’s Hospital of Chicago, a NORD Rare Disease Center of Excellence

Panelists:

• Amy Palmer Laster, PhD, Chief Scientific Officer, Foundation Fighting Blindness
• Mayowa Azeez Osundiji, MD, PhD, Medical Geneticist, Mayo Clinic, a NORD Rare Disease Center of Excellence
• Srilakshmi (Sri) Raj, PhD, Assistant Professor of Genetics, Albert Einstein College of Medicine, a NORD Rare Disease Center of Excellence
• Theresa Strong, PhD, Director of Research Programs, Foundation for Prader-Willi Research