2026 Agenda

Monday, September 14:

08:00 AM - Registration Opens

09:00 AM – 12:00 PM | Accelerate RARE A- Invitation-Only Working Group

Evidence Standards for Rare and Individualized Therapies, chaired by Janet Woodcock, MD

Participation is limited to invited working group members. Findings and recommendations will be shared with the broader Rare Trials Summit community.

01:00 PM – 04:00 PM | Accelerate RARE B - Invitation-Only Working Group

Minimum Readiness Standards for Pediatric Trials, chaired by Ron Bartek, Founder & President, FARA

Participation is limited to invited working group members. Findings and recommendations will be shared with the broader Rare Trials Summit community.

04:00 PM – 05:30 PM | Screening of RARE: A Rare Disease Revolution followed by Post-Screening Conversation with Lainey Moseley, Filmmaker and Hulda Björk Svansdóttir, Patient Advocate and Parent, Dancing for Duchenne

Open to all Rare Trials Summit attendees

05:30 PM – 07:30 PM | Welcome Reception (open to all Rare Trials Summit attendees)

Tuesday, September 15:

07:30 AM – 08:00 AM | Networking Breakfast

08:00 AM - 08:15 AM | Effie Parks, Main Stage Host, September 15-16,Host, Once Upon a Gene Podcast; Founder, The Effie Parks Foundation

08:15 AM – 08:45 AM | OPENING KEYNOTE - DAY 1

From Breakthrough to Access: How Advocacy and Policy Decide What Reaches Patients

Michele M. Oshman, Chief Patient Advocate, SVP Alliance Development, Biotechnology Innovation Organization

Guests: Joe, Courtney and Maggie Dion, The Dion Family Foundation

Track 1 - Patient Identification and Enrollment

09:00 – 09:30 | Presentation: From Data to Discovery: Finding the Right Patients for Rare Disease Trials. How combining genetically confirmed cohorts with rich phenotypic and longitudinal real-world data can improve patient identification and trial planning.

Colleen Caleshu, MSc, LCGC, Senior Director Translational Research, GeneDx

Sarah Chang, PhD, Medical Strategy Lead, Early Indications, UCB

Joe Walter, MBA, Senior Director of Marketing & Market Development, Neurvati Neurosciences

09:45 – 10:30 | Fireside Chat: From Awareness to Activation - Converting Rare Patient Identification into Trial Enrollment. A practical look at rare disease recruitment, including patient engagement and consent.

Dennis Akkaya, MSc, Chief Commercial Officer, myTomorrows

Mark, Stone, President and CEO, The FSHD Society

Edward Smith, MD, Medical Director and Principal Investigator, Rare Disease Research

10:45 – 12:00 | Workshop: Mapping the Rare Patient Journey. Teams build an “enrollment funnel” model using real trial data - identifying drop-off points and intervention tactics..

Maria-Cruz Morillo, Global Head of Advanced Therapies, Rare Disease & CGT, Allucent

Holly Peay, PhD, Senior Director, Faegre Drinker Consulting

Karin Hoelzer, DVM PhD, Senior Director, Patient Advocacy, Biotechnology Innovation Organization

Danielle Dong, MS, Scientific Advocacy Lead, Global Medical Affairs, Rare Disease, Sanofi

12:00 PM – 01:00 PM | Networking Lunch

01:00 – 01:30 | Presentation: Patient Input and Digital Health Technologies: A Regulatory Perspective Across the Product Lifecycle

Cyndi Grossman, PhD, Division Director, Patient-Centered Development, Office of Strategic Partnerships and Technology Innovation, CDRH, FDA

01:45 – 02:30 | Fireside Chat: Retention by Design - Keeping Families Engaged for Multi-Year Studies. Perspectives on long-term trial participation.

Jennifer McNary, Co-Founder and CEO, Canary Concierge

Mary McGowan, MA, President and CEO, Foundation for Sarcoidosis Research

Micaela Rodine, MS, CCRP, Director of Clinical Operations, BridgeBio

02:45 – 04:15 | Workshop: Bridging the Generational Divide in Rare Disease Clinical Trials: Tailoring Communication to Maximize Recruitment, Retention, and Equity.

Paula Orandash, Director, Patient Engagement, ERGOMED

Kris O’Brien, Director, Program Strategy, Rare Disease, ERGOMED

Hulda Björk Svansdóttir, Caregiver and Patient Advocate, Dancing for Duchenne

Track 2 - Operational Efficiency in Rare Disease Trials

09:00 – 09:30 | Presentation: Myth-Busting Hybrid & Home-Based Trials: What’s Real, What’s Not and What Scales. An evidence-based look at decentralized trial performance in the real world.

Craig Lipset, MPH, Co-Chair and Jane Myles, MSc, VP Programs and Initiatives, Digital Trials & Research Alliance

09:45 – 10:30 | Fireside Chat: One Shot, No Slack: The Clinical Decisions That Make or Break a Rare Disease Program

Eli Taube, MBA, MSc, PMP, VP, Head of Clinical Operations, uniQure

Tara Smith, PhD, EVP Innovative Therapies, Med-Life Discoveries LP

10:45 – 12:00 | Workshop: Designing Neuromuscular Trials for Successful Execution: The Role of Specialized CROs, Sites and Clinical Research Vendors. Participants evaluate mock vendor options and budget trade-offs to design an integrated solution.

Lauren Morgenroth, CEO, TRiNDS

Han C. Phan, MD, Founder & CEO, Rare Disease Research

Gemma Whiteley, MBA, Managing Director, FutureMeds

12:00 PM – 01:00 PM | Networking Lunch

01:00 – 01:30 | Presentation: Learning More from Less: Smarter Design and Execution in Rare Disease Trials. How smarter trial design and advanced analytics can generate stronger evidence from fewer rare disease patients.

Raviv Pryluk, PhD, CEO and Co-Founder, PhaseV

01:45 – 02:30 | Fireside Chat: Pediatric Rare Disease Development: Evidence, Flexibility, and Regulatory Pathways. A discussion of pediatric rare disease development, evidence generation, accelerated pathways, and practical considerations.

Jennifer McKenzie, MD FAAP FASN, Senior Clinical Program Leader, Boehringer Ingelheim

Janet Maynard, MD MHS, Director, Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine, FDA

Angi Robinson, Senior Vice President, Specialty Areas, Premier Research

02:45 – 04:15 | Workshop: Ultra-Rare, Ultra-Lean: Designing for a Viable ROI Under 1,000 Patients. A practical look at designing and executing ultra-rare trials cost effectively, focusing on what’s essential versus what’s just habit.

Casey McPherson, Founder & CEO, AlphaRose Therapeutics

Brandon Henry, MD FACSc, IFAPP Fellow, Founder & Chief Executive and Medical Officer, Aurelix Bio

Stephanie Manton, PhD, CEO and Co-Founder, WinQure Medicine

Andreas Reimann, PhD MBA, Co-Founder and Managing Partner, admedicum

04:30 PM - 05:30 PM | CROSS-TRACK STRATEGIC PLENARY

Platform and Basket Trials in Rare Disease: What’s Working, What Isn’t, and What It Takes to Scale. Practical lessons from platform and basket trials in rare disease indications.

James D. Berry, MD MPH, Chief, Division of Motor Neuron Diseases, MGH Harvard, ALS HEALY Platform Trial

Michelle Mellion, MD, Chief Medical Officer, AstronauTx, The Master Protocol (EOM-MP1)

Nerissa Kreher, MD MBA, Chief Medical Officer, Alltrna

05:30 PM - 07:30 PM | Exhibitor Reception (Open to all Rare Trials Summit attendees)

Wednesday, September 16:

07:30 AM – 08:15 AM | Networking Breakfast

08:15 AM – 08:45 AM | OPENING SESSION - DAY 2 - sponsored by ERGOMED

What If the Treatment Works, but the Trial Can’t Measure It? Why rare disease trials can fail before the first patient is enrolled.

Terry Jo Bichell, PhD, CEO, COMBINEDBrain

Miro Pastrnak, PhD, Chief Strategy Officer, Rare Disease Research

Track 3 - Regulatory and Endpoint Strategy

09:00 – 09:30 | Fireside Chat: Inside the FDA Mindset - Negotiating Endpoints and Surrogates. With perspective on EMA, PMDA, and NMPA divergence.

Sandeep Menon, PhD MPH, Chief Development and Research Officer, BioCryst Pharmaceuticals

Nicole LaMarca DNP, MSN, CPNP, Senior Director, Patient Affairs, Sarepta Therapeutics

09:45 – 10:30 | Panel Discussion: Patient Organizations as Evidence Partners: Shaping the Science Behind Rare Disease Approval. How patient organizations help shape the evidence behind rare disease approvals.

Terri L. Klein, CEO, National MPS Society

Andrea Faris, Director, The Acid Maltase Deficiency Association (AMDA) - Pompe

Megan Freed, Senior Director, Data & Health Technology Integration, Parent Project Muscular Dystrophy (PPMD)

Catherine Warren, Executive Director, National PKU Alliance

10:45 – 12:00 | Workshop: Write Your Own Endpoint Justification. Teams incorporate AI-derived biomarkers and global acceptance criteria.

Naomi Knoble, PhD, Senior Clinical Analyst, Division of Rare Diseases and Medical Genetics, FDA

Caiyan Zhang, PhD, Associate Director - Patient-Centered Outcomes, Takeda

Ebony Dashiell-Aje, PhD, Executive Director and Head, Patient Centered Outcomes Science, BioMarin Pharmaceuticals

Dominique Pichard, MD MS, Chief Scientific and Medical Officer, International Rett Syndrome Foundation

12:00 PM - 01:00 PM | Networking Lunch

01:00 PM – 01:45 PM | CROSS-TRACK STRATEGIC PLENARY

Theme: The Plausible Mechanism Pathway: A New Evidence Playbook for Rare Disease Development. This plenary examines the plausible mechanism pathway as an emerging evidence framework in rare disease development, including where it may apply and key considerations for sponsors, patient groups, and other stakeholders.

Julia Vitarello, Co-Founder, N=1 Collaborative, Founder and CEO, Mila’s Miracle Foundation

Barrett Tenbarge, JD, Partner, FDA and Life Sciences Regulatory, Faegre Drinker

Jennifer Panagoulias, Chief Operating Officer, Foundation for Angelman Syndrome Therapeutics (FAST) and AS2Bio

Winston Yan, MD PhD, Director, Center for Genetic Surgery, The Broad Institute of MIT and Harvard

02:00 – 02:30 | Presentation: Leveraging Natural History and RWE for Rare Approvals. Using observational data without tripping over bias and data provenance.

Michael Binks, MD, Chief Medical Officer, Capricor Therapeutics

02:45 – 03:30 | Fireside Chat: Accelerated Pathways and Global Harmonization. How companies align submissions across three continents.

Rachel Smith, Vice President, Rare and Genetic Diseases, Parexel

Chiemeka Ike, MPH, PharmD, MS, Head, HEOR, Celcuity

03:45 – 04:30 | Workshop: Mock Regulatory Advisory Meeting. Sponsor–regulator role-play.

Elizabeth Duke, MD, Senior Vice President, Canal Row Advisors, former FDA reviewer

Kim Quaintance-Lunn, VP, Head of Regulatory Science and Execution, Alexion Pharmaceuticals

Steven Grossman, JD, President, HPS Group

Sierra Phillips, Chief of Staff, Aurelix Bio

Track 4 - Commercial and Partnership Value Realization

09:00 – 09:30 | Presentation: Practical Application of Bayesian Networks in Rare Disease Trials.

J. Jaime Caro, MD, Chief Scientist, Evidera, now Thermo Fisher Scientific and Adjunct Professor of Medicine, Epidemiology Biostatistics, McGill University

09:45 – 10:30 | Fireside Chat: Who Really Decides Which Rare Disease Therapies Survive: Regulators, Investors, Payers, or Patients? What a rare disease therapy has to prove, argued live, with the room weighing in.

Chris Garabedian, CEO, Xontogeny and Portfolio Manager, Perceptive Xontogeny Venture Fund

Schiffon Wong, MPH, Founder & Principal, Schiffon Wong Strategic Advisory

Moderator: Erica Spies, PhD, Executive Scientific Director, Research and Strategy, Modus Outcomes, a THREAD company

10:45 – 12:00 | Workshop: Modeling Value Across the Rare Disease Patient Journey. Teams examine how earlier diagnosis, smoother access, faster therapy start, stronger adherence, and longer persistence influence launch performance and long-term brand value.

Molly Painter, MBA, Head of Immunology Commercial and National Accounts, Takeda

Jaya Khushalani, MD PhD MBA, National Lead HEOR Epilepsy and Rare Syndromes, UCB

Jake Caines, Chief Revenue Officer, Curant Rare

12:00 PM – 01:00 PM | Networking Lunch

01:00 PM – 01:45 PM | CROSS-TRACK STRATEGIC PLENARY (see the Track 3 above)

02:00 – 02:30 | Presentation: From Parent Advocacy to IND: Building a Treatment Pathway for an Ultra-Rare Disease.  How the Rare Trait Hope Fund helped move an AGU therapy from diagnosis-driven urgency to translational development, FDA engagement, and clinical trial.

Julia Taravella, MEng, Founder and Executive Director, Rare Trait Hope Fund

02:45 – 03:30 | Fireside Chat: Commercial Success in Rare Disease Takes an Ecosystem: Aligning Manufacturers, Specialty Pharmacy, Providers, and Patient Support. How rare disease companies align access, care delivery, and patient support to drive durable uptake and long-term value.

Marc O'Connor, MBA, Principal and Chief Business Officer, Curant Rare

Raymond A. Huml, MS, DVM, RAC, Executive Director, Therapeutic Strategy Lead, Rare Diseases, Worldwide Clinical Trials