2025 Conference Agenda

 

Boston, MA, 22 - 24 April 2025

Schedule

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Apr 2212:55
Conference pass

Chairperson's opening remarks

Patient Data
Room 050
Apr 2212:55
Conference pass

Chairperson's opening remarks

Research & Development

To be announced.

Room 051
Apr 2212:55
Conference pass

Chairperson's opening remarks

Access & Pricing

To be announced.

Room 052A
Apr 2212:55
Conference pass

Chairperson's opening remarks

Workshops

To be announced.

Room 052B
Apr 2213:00
Conference pass

Presentation: The health Benefits, costs, and cost-effectiveness of ultraorphan drugs

Access & Pricing
Room 052A
Apr 2213:00
Conference pass

Presentation: To be announced

Patient Data

Reserved for NORD.

Room 050
Apr 2213:00
Conference pass

Workshop 1: Breaking into Europe: Partnerships that propel U.S. biotechs to orphan drug success

Workshops

Sponsored by Sciensus.

Andrew Cummins, VP Access and Reimbursement, Sciensus
Mathieu Loiseau, Director of Rare Clinical Services, Sciensus
Room 052B
Apr 2213:20
Conference pass

Fireside chat: The value of patient experience data to advance rare disease research

Patient Data
Room 050
Apr 2213:20
Conference pass

Presentation: Cell and gene therapy access model: The predictability of funding for sickle cell disease

Access & Pricing
Laura McWright, Deputy Director, Seamless Care Models Group/ Centers for Medicare and Medicaid Services
Room 052A
Apr 2213:40
Conference pass

Fireside chat: Changing the Playing Field for Real World Data - Patient Quality of Life though data analytics and AI

Patient Data
Thomas Bartlett, Rare Disease Patient Digital Technology Advisor, Bartlett Rare Disease Advocacy
Susan Woolner, Hauenstein Neurosciences Patient & Caregiver Support/Community Partner Manager, Trinity Health MI
Apr 2213:40
Conference pass

Presentation: Advocating for patient access to therapy at every stage of the total product life cycle

Access & Pricing
Room 052A
Apr 2213:40
Conference pass

Workshop: Applications of the FasterCures Research Partnership Maturity Model

Research & Development
Room 051
Apr 2214:00
Conference pass

Panel: Ethics and Strategies for Returning Individual Patient Data collected in clinical research

Patient Data
Moderator: Mindy Cameron, President, AdvocacyWorks Consulting
Suzanne Gaglianone, Patient Care Field Representative, ReveraGen BioPharma Inc
Jodi Wolff, Founder, Strategic Advocacy Solutions, LLC
Room 050
Apr 2214:00
Conference pass

Presentation: Navigating the complexities of accessing emerging therapies across state borders

Access & Pricing
Room 052A
Apr 2214:20
Conference pass

Presentation: Aligning policy for optimal access for gene therapies

Access & Pricing
Erica Barnes, Rare Disease Advisory Council Administrator, University of Minnesota
Room 052A
Apr 2214:20
Conference pass
Apr 2214:40
Conference pass

Afternoon break

Break

Afternoon break before pre-conference sessions resume.

Apr 2214:55
Conference pass

Chairperson's opening remarks

Patient Data
Room 050
Apr 2214:55
Conference pass

Chairperson's opening remarks

Next Gen Therapies

To be announced.

Room 051
Apr 2214:55
Conference pass

Chairperson's opening remarks

Access & Pricing

To be announced.

Room 052A
Apr 2214:55
Conference pass

Chairperson's opening remarks

Workshops

To be announced.

Room 052B
Apr 2215:00
Conference pass

Presentation: Developments in access to care policy for the rare disease community

Access & Pricing
Room 052A
Apr 2215:00
Conference pass

Presentation: Illuminating ultra-rare disease journeys: Harnessing real-world data and advanced analytics to identify the undiagnosed

Patient Data
Anny Bedard, President, Egetis Therapeutics US
Room 050
Apr 2215:00
Conference pass

Presentation: Precision targeting of the regulatory genome: Advancing cell state reprogramming in disease

Next Gen Therapies
Jordan Shin, Chief Medical Officer, HAYA Therapeutics
Room 051
Apr 2215:00
Conference pass

Workshop 3: The FDA AI in drug development guidance and orphan drug development

Workshops
Room 052B
Apr 2215:00
Conference pass

Workshop 3: To be announced

Workshops

To be announced.

Room 052B
Apr 2215:20
Conference pass

Presentation: Data standards in rare diseases: Building a framework for consistency and collaboration

Patient Data

To be announced.

Room 050
Apr 2215:20
Conference pass

Presentation: The practice of gene therapies: Pharmacy perspectives

Next Gen Therapies

To be announced.

Room 051
Apr 2215:20
Conference pass

Workshop: Patient Registries: A practical approach for patient foundations

Patient Data
Room 050
Apr 2215:40
Conference pass

Presentation: Data Gaps and Solutions: Identifying and addressing challenges in rare disease research

Patient Data

To be announced.

Room 050
Apr 2215:40
Conference pass

Presentation: The pathway to approval: jCell therapy for the treatment of Retinitis pigmentosa

Next Gen Therapies
John Sholar, Chief Executive Officer, jCyte Inc
Room 051
Apr 2216:00
Conference pass

Presentation: Development of a gene therapy for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay; challenges and success

Next Gen Therapies
Alexandre Pare, Scientific Researcher, McGill University
Room 051
Apr 2216:00
Conference pass

Workshop 4: To be announced

Workshops

Reserved for supporting partner.

Room 052B
Apr 2216:00
Conference pass

Workshop: Reserved for EverythingALS

Patient Data

To be announced.

Room 050
Apr 2216:20
Conference pass

Presentation: Advancing the use of Peptide-Conjugated Oligonucleotides to target Neuromuscular Disorders

Next Gen Therapies
Mangala Soundar, Senior Director, Discovery Neurology,, PepGen
Room 051

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Apr 237:45
Conference pass

Expo hall & registration opens

Keynotes

Expo hall & registration opens

Apr 238:20
Conference pass

Opening remarks: Today’s policies will make or break tomorrow’s Rare Disease pipelines

Keynotes
Keynote stage - Hall C
Apr 238:35
Conference pass

Keynote: To be announced

Keynotes

Reserved for Title Sponsor

Moderator: Erika Edwards, Health and Medical Reporter and Writer, NBC News
Keynote stage - Hall C
Apr 239:05
Conference pass

Keynote: Repositioning dugs for Rare Diseases: Unleashing the potential of shelved assets in pharma and biotech

Keynotes

The pharmaceutical and biotech sectors allocate billions of dollars annually to developing new therapies. However, some assets face discontinuation not due to scientific or medical reasons but due to marketing and strategic priorities. These 'shelved assets' frequently remain underutilized despite their potential medical and commercial value.

This panel brings together Freda Lewis-Hall, former Chief Medical Officer at Pfizer and a renowned expert in drug repositioning, Andrew Lo, an MIT finance professor specializing in innovative financial models, and a policy expert (TBD). Moderated by Annette Bakker, CEO of the Children's Tumor Foundation and a firm advocate for releasing shelved assets for NF, the discussion will focus on crafting frameworks that align medical needs with economic incentives. Together, the panel will present opportunities to transform overlooked assets into lifesaving treatments for patients with low-incidence or low-market diseases.

By addressing this pressing issue, the panel will spotlight actionable solutions to create a win-win scenario—improving healthcare outcomes while driving economic growth in the pharmaceutical and biotech industries globally.

Freda C Lewis-Hall, Former Chief Patient Officer And Executive Vice President, Pfizer
Andrew Lo, Charles E. and Susan T. Harris Professor, MIT Sloan School of Management
Tanisha Carino, Visiting Fellow, Duke-Margolis Institute for Health Policy
Keynote stage - Hall C
Apr 239:45
Conference pass

Keynote: Vision 2030: Charting a bright future for rare medicine

Keynotes

Discussion to focus on immediate outcomes of Rare Disease Innovation Hub as a new model of collaboration between CDER and CBER. While the extent to which this initiative will translate into influencing policy or decision making is unknown, it has the potential significance on the scale of Patient Focused Drug Development 2.0 – representing an opportunity for a systematic approach to prioritize and streamline rare disease drug development. with. Discussion sub-topics:

  • Vision for Rare Disease Innovation Hub and advice for the RD community
  • Impacts to endpoint assessments, trial design, patient recruitment and development efficiency
Keynote stage - Hall C
Apr 2310:25
Conference pass

Networking, poster, and expo break

Break

Networking, poster, and expo break

Hall C
Apr 2311:00
Conference pass

Chairperson's opening remarks

Commercial
Kristin Marvin-Keller, Managing Director, Havas Life Rare
Theater 7 - Room 052B
Apr 2311:00
Conference pass

Chairperson's opening remarks

Rare Advocacy
Theater 1 - Hall C
Apr 2311:00
Conference pass
Apr 2311:00
Conference pass

Chairperson's opening remarks

AI & Digital Health
Christopher Rudolf, Founder and Chief Executive Officer, Volv Global
Theater 3 - Hall C
Apr 2311:00
Conference pass

Chairperson's opening remarks

Early Access Programs
Rachel Harrison, Director, Expanded Access Programs, Argenx
Theater 4 - Room 050
Apr 2311:00
Conference pass

Chair's opening remarks

Innovation & Partnerships
Scott Baver, VP, Head of US Medical Affairs, ITF Therapeutics
Theater 2 - Hall C
Apr 2311:05
Conference pass

Fireside chat: The overlooked conversation: Disability and its impact on clinical trial participation in rare diseases 

Clinical Development & Regulatory
Melissa Penn, Director Patient Engagement Research & Development, Bayer
Theater 6 - Room 052A
Apr 2311:05
Conference pass

Panel: The science of patient and physician activation – how health literacy and learning models can be harnessed to create commercial momentum

Commercial

Sponsored by HAVAS.

Kristin Marvin-Keller, Managing Director, Havas Life Rare
Theater 7 - Room 052B
Apr 2311:05
Conference pass

Presentation: The heart of drug development: Building community and empowering the patient voice

Rare Advocacy
Theater 1 - Hall C
Apr 2311:05
Conference pass

Presentation: Multifaceted approach for quantification and enzymatic activity of Iduronate‐2‐Sulfatase to support developing gene therapy for hunter syndrome

Advanced Therapies
Theater 5 - Room 051
Apr 2311:05
Conference pass

Panel: Where technology meets Human: Redefining patient personalisation

AI & Digital Health

We will discuss what technology can bring to healthcare from three perspectives: patient, pharma and healthcare. How AI gives us capabilities to shine a new lens on understanding patients and the personalisation of care. Uncovering its impact on decision-making forall stakeholders.

Theater 3 - Hall C
Apr 2311:05
Conference pass

Presentation: Overcoming stigma and bias for Sickle Cell Disease - How it impacts access to treatment

Early Access Programs
Theater 4 - Room 050
Apr 2311:05
Conference pass

Company presentation: Flag Therapeutics

Innovation & Partnerships
Frank Sorgi, President and Chief Executive Officer, FLAG Therapeutics
Theater 2 - Hall C
Apr 2311:15
Conference pass

Company presentation: Allogeneic Treg cell therapies for rare autoimmune and inflammatory diseases: Restoring immune balance

Innovation & Partnerships
Theater 2 - Hall C
Apr 2311:25
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Presentation: The Importance of taking a patient centric approach when conducting rare disease clinical trials

Clinical Development & Regulatory

Sponsored by Caidya.

Jonathan Kornstein, VP, Rare Disease & Pediatrics Clinical Development, CAIDYA
Theater 6 - Room 052A
Apr 2311:25
Conference pass

Presentation: Facilitating a non-US sponsor’s engagement with a rare disease patient advocacy organization: A case study

Rare Advocacy

Sponsored by Ergomed

Theater 1 - Hall C
Apr 2311:25
Conference pass

Presentation: Barriers in site identification: Navigating challenges in advanced therapy trials

Advanced Therapies

Sponsored by Premier Research.

Theater 5 - Room 051
Apr 2311:25
Conference pass

Fireside Chat: Hot topics in EAP

Early Access Programs
Rachel Harrison, Director, Expanded Access Programs, Argenx
Theater 4 - Room 050
Apr 2311:25
Conference pass

Company presentation 3: Advancing therapeutic discovery for the rare genetic neurodevelopmental disorders

Innovation & Partnerships
Theater 2 - Hall C
Apr 2311:35
Conference pass

Company presentation: Developing a cell therapy for spinocerebellar ataxias (SCAs): PII lessons learned and moving forward

Innovation & Partnerships
Kurt Gunter, Clinical Development Advisor, Steminent Biotherapeutics Inc.
Theater 2 - Hall C
Apr 2311:45
Conference pass

Presentation: Ultra-Rare: Overcoming challenges in clinical development

Clinical Development & Regulatory
Alice McConnell, Chief Executive Officer, Speragen, Inc
Theater 6 - Room 052A
Apr 2311:45
Conference pass

Presentation: Patient access in CGT for rare disease – How do we improve and optimize product adoption? Conference Day Title

Commercial
Jaclyn Martin, Vice President of Global Head Market Access Cell and Gene Therapy, Bayer
Theater 7 - Room 052B
Apr 2311:45
Conference pass
Apr 2311:45
Conference pass

Presentation: The Neuro-Generation: Action potential of platform approaches and NextGen advocates

Advanced Therapies
Simon Frost, Chief Executive Officer & Co-Founder, Tiber Capital
Theater 5 - Room 051
Apr 2311:45
Conference pass

Presentation: Challenges health care professionals face when applying to early access programs from a project manager’s perspective

Early Access Programs

Topics to be discussed include:

  • Knowledge level of EAPs
  • Clarity levels of EAP application processes set by pharmaceutical sponsors
  • Recommended educational modules to improve EAP knowledge
  • EAP enhancement recommendations
  • How do HCPs become aware of an EAP?

Sponsored by Bionical Emas.

Theater 4 - Room 050
Apr 2311:45
Conference pass

Company presentation 5

Innovation & Partnerships
Hourinaz Behesti, Founder & CEO, Hebbian Bio
Theater 2 - Hall C
Apr 2311:55
Conference pass

Company presentation: Upregulating gene expression by targeting regulatory RNAs: a new approach for urea cycle disorders and other genetic diseases

Innovation & Partnerships
Theater 2 - Hall C
Apr 2312:05
Conference pass

Presentation: Unique execution strategies for complex trials in rare diseases

Clinical Development & Regulatory

Sponsored by Ergomed

Juliet Moritz, Senior VP Strategic Solutions and Patient Centricity, Ergomed
Theater 6 - Room 052A
Apr 2312:05
Conference pass

Fireside chat: Challenges and approaches for patient identification in Rare Diseases

Commercial
Zhou Jiang, VP of Early Commercial and Corporate Strategy, Edgewise Therapeutics
Ahmad Alrawi, SVP Corporate Strategy, Commense Bio
Theater 7 - Room 052B
Apr 2312:05
Conference pass

Presentation: To be announced

Rare Advocacy

Sponsored by Sanofi.

Amy Teets, Global Head Patient Strategy, Specialty Care, Sanofi
Theater 1 - Hall C
Apr 2312:05
Conference pass

Presentation: AI innovation needs the patient’s voice

Advanced Therapies

Sponsored by Parexel.

Kim MacDonnell, Associate Director, Rare Disease, COE, Parexel
Theater 5 - Room 051
Apr 2312:05
Conference pass

Presentation: AI-driven indication expansion: Transforming rare disease treatment

AI & Digital Health

Sponsored by Onocross.

Seungoh Seo, Senior AI Researcher, ONCOCROSS
Theater 3 - Hall C
Apr 2312:05
Conference pass

Presentation: To be announced

Early Access Programs

Sponsored by WEP Clinical.

Theater 4 - Room 050
Apr 2312:05
Conference pass

Company presentation: Nicotinamide Riboside for the treatment of Ataxia Telangiectasia

Innovation & Partnerships
Theater 2 - Hall C
Apr 2312:25
Conference pass

Short break before lunch keynote

Break

Please re-join us as the keynote stage for our lunch keynote panel.

Apr 2312:35
Conference pass
Apr 2313:15
Conference pass

Networking, Poster, & Expo Break

Break

Networking, Poster, & Expo Break.

Hall C
Apr 2314:00
Conference pass

Roundtable 1: Learnings from and value of including patient experience in clinical trials in rare diseases

Roundtables

Sponsored by Alfasigma.

Alexandra Mangili, Head of Clinical Sciences, Alfasigma
Veruska di Sena, SVP, Head of US Medical Affairs, Intercept Pharmaceuticals, Inc.
Apr 2314:00
Conference pass

Roundtable 10: Finding the common in rare: Unlocking the power of the parent voice

Roundtables
Apr 2314:00
Conference pass

Roundtable 11: Being in-the-know: What VCs are looking for in 2025

Roundtables

To be announced

Apr 2314:00
Conference pass

Roundtable 12:The mental health burden of the diagnostic odyssey

Roundtables
Apr 2314:00
Conference pass

Roundtable 2: The truths and myths of building a patient-first exclusive distribution program 

Roundtables

Join us for an engaging roundtable discussion hosted by AscellaHealth, where we’ll aim to demystify common misconceptions surrounding exclusive distribution models for specialty pharmaceuticals. Throughout this interactive discussion, participants are invited to share insights and experiences while we explore the real-world impact of exclusive distribution on treatment access and advancing patient-centered care. Together, we’ll discover the truth about how exclusive distribution drives better outcomes for manufacturers, healthcare providers, and, most importantly, patients with complex, chronic and rare diseases—showcasing the crucial role it plays in ensuring that the right therapies are delivered to the right patients at the right time.

Apr 2314:00
Conference pass

Roundtable 3: Gene therapy for rare diseases: Clinical trial experiences and lessons learned

Roundtables

This roundtable discussion will look to discuss:

  • Challenges in designing gene therapy clinical trials
  • Lessoned learned around long term follow up, need for ongoing monitoring
  • Incorporating feedback from patients and families into trial design
  • Key considerations for gaining approval from regulatory bodies

Sponsored by Thermo Fisher Scientific.

Mariana Burin, Medical Director, Thermo Fisher Scientific
Apr 2314:00
Conference pass

Roundtable 4: Holistic product planning: Due diligence and early considerations for prioritizing assets and indications

Roundtables

This roundtable will discuss key considerations for building integrated evidence at the earliest stages of development to satisfy the needs of multiple stakeholders.

Sponsored by Parexel.

Apr 2314:00
Conference pass

Roundtable 5: Co Creating a patient advocacy engagement plan for early access programs (EAPs)

Roundtables
  • A collaborative discussion on how to engage patient advocacy groups when planning early access programs – covering frameworks, educational resources, compliance considerations and communication strategies.
  • Case studiesinvolvingraredisease patient advocacy groups including examples of how to tailor your specific engagement plans
  • Opportunity todevelop practical early access patient engagement plan to be provided as an industry resource.

Sponsored by Bionical Emas.

Apr 2314:00
Conference pass

Roundtable 6: HTAi RD interest group - results and insights from a multistakeholder webinar on Rare Diseases Day 

Roundtables

Sponsored by Sanofi.

Alicia Granados, Head, Global Rare Diseases Medical Scientific Advocacy, Sanofi
Apr 2314:00
Conference pass

Roundtable 7: Rare access to patient therapies

Roundtables
Apr 2314:00
Conference pass

Roundtable 8: EAP Documents needing patient input: Discussion and list creation

Roundtables
Rachel Harrison, Director, Expanded Access Programs, Argenx
Apr 2314:00
Conference pass

Roundtable 9: Building and advancing research capabilities for ultra-rare disease foundations and parents

Roundtables
Apr 2314:40
Conference pass

Roundtables end. Short break before track sessions resume.

Break

Roundtables end. Short break before track sessions resume.

Apr 2314:45
Conference pass

Chairperson's opening remarks

Rare Advocacy
Theater 1 - Hall C
Apr 2314:45
Conference pass
Apr 2314:45
Conference pass

Chairperson's opening remarks

AI & Digital Health
Christopher Rudolf, Founder and Chief Executive Officer, Volv Global
Theater 3 - Hall C
Apr 2314:45
Conference pass

Chairperson's opening remarks

Early Access Programs
Rachel Harrison, Director, Expanded Access Programs, Argenx
Theater 4 - Room 050
Apr 2314:45
Conference pass

Chairperson's opening remarks

Innovation & Partnerships
Scott Baver, VP, Head of US Medical Affairs, ITF Therapeutics
Theater 2- Hall C
Apr 2314:50
Conference pass

Presentation: Regulatory and clinical landscape for developing therapeutics for Rare Seizure Disorder

Clinical Development & Regulatory

This session will explore:

  • Types of disorders typically targeted and potential therapeutics
  • Examples of regulatory challenges developing products for this patient population (e.g., safety and quality concerns with cannabinoids; leveraging historical controls and natural studies)
  • Evidence of efficacy with different types of therapeutics

Sponsored by Allucent.

Theater 6 - Room 052A
Apr 2314:50
Conference pass

Presentation: To be announced

Commercial

Reserved for supporting partner.

Theater 7 - Room 052B
Apr 2314:50
Conference pass

Presentation: Maximizing impact of patient voice: Practical partnering advice from biopharma & patient advocacy leaders

Rare Advocacy
Theater 1 - Hall C
Apr 2314:50
Conference pass

Presentation: To be announced

Advanced Therapies

Sponsored by Johnson & Johnson.

Silas Martin, Head, Access & Policy Research, Johnson & Johnson
Theater 5 - Room 051
Apr 2314:50
Conference pass

Presentation: To be announced

AI & Digital Health

Reserved for supporting partner.

Theater 3 - Hall C
Apr 2314:50
Conference pass

Fireside chat: Driving reimbursement success in Europe with real-world evidence - A case study

Early Access Programs

Sponsored by Sciensus.

Mathieu Loiseau, Director of Rare Clinical Services, Sciensus
Andrew Cummins, VP Access and Reimbursement, Sciensus
Theater 4 - Room 050
Apr 2314:50
Conference pass

Panel: Discovery 1-2-3. Three biotech companies share how they are using genomic insights to accelerate drug development

Innovation & Partnerships

Sponsored by GeneDx.

Moderator: Amanda Singleton, Director, Patient Advocacy and Biopharma Clinical Lead, GeneDx
Tanya Bardakjian, Director, Medical Affairs Diagnostics, Sarepta Therapeutics
Theater 2
Apr 2315:10
Conference pass

Presentation: Harnessing real-world evidence and data in shaping clinical development pathways

Clinical Development & Regulatory
Surabhi Verma, Chief Medical Officer, Leadiant Biosciences
Theater 6 - Room 052A
Apr 2315:10
Conference pass

Presentation: Navigating launch challenges: Best practices for Orphan Drug market entry

Commercial
Theater 7 - Room 052B
Apr 2315:10
Conference pass

Presentation: Beyond advocacy: The power of patient-supporting organizations

Rare Advocacy
Pangkong Fox, Science Engagement Director, CACNA1A Foundation, Inc.
Theater 1 - Hall C
Apr 2315:10
Conference pass

Presentation: To be announced

AI & Digital Health

To be announced.

Theater 3 - Hall C
Apr 2315:10
Conference pass

Presentation: Setting up an EAP without a CRO

Early Access Programs
Amber Fisher, Senior Clinical Research Manager, Kura Oncology Inc
Theater 4 - Room 050
Apr 2315:30
Conference pass

Short break before afternoon keynotes

Break

Please follow signage to the keynote stage.

Apr 2315:30
Conference pass

Presentation: To be announced

Clinical Development & Regulatory

Reserved for supporting partner.

Theater 6 - Room 052A
Apr 2315:30
Conference pass

Presentation: Establishing ITF Therapeutics: Learnings from year one

Commercial
Matt Trudeau, President, ITF Therapeutics
Theater 7 - Room 052B
Apr 2315:30
Conference pass

Fireside Chat: ARSACS (Ataxia Charlevoix-Saguenay): Finding solutions for rare disease patients

Rare Advocacy

The rare disease community has seen an increased uptick in collaboration between scientists around the world to find solutions for rare disease patients. The panel for this unique fireside chat will discuss the perspective of a rare disease caregiver who has a daughter with ARSACS and her intensive search to find a treatment or cure. After more than twenty years of seeking a diagnosis, she stumbled upon the work of world renowned neurologist, Dr. Jeremy Schmahmann of Massachusetts General Hospital, and he diagnosed her daughter during a tele-visit in 2020. Subsequently, the two have partnered together with the ARSACS Foundation, based in Montreal Canada, to embark upon various research protocols, fundraising initiatives, and collaborative efforts to rapidly advance science forward for this rare disease.

Sonia Gobeil, Cofounder, Ataxia of Charlevoix-Saguenay Foundation
Jeremy Schmahmann, Founding Director, Massachusetts General Hospital Ataxia Center, Massachusetts General Hospital Ataxia Center
Theater 1 - Hall C
Apr 2315:30
Conference pass

Fireside chat: Novel immunotherapies for Glioblastoma

Advanced Therapies
Dwain Irvin, Chief Executive Officer, NovAccess Global, Inc
Theater 5 - Room 051
Apr 2315:30
Conference pass

Presentation: Big Tech, AI and Us: How citizen-driven research participation and AI are turning the flywheel of radical innovation in neuromuscular disease outcomes measures

AI & Digital Health
Theater 3 - Hall C
Apr 2315:30
Conference pass

Presentation: What can companies compliantly do in an EAP?

Early Access Programs
Christopher Robertson, Professor of Law, Boston University
Theater 4 - Room 050
Apr 2315:30
Conference pass

Presentation: How are we launching innovation in Europe?

Innovation & Partnerships
Theater 2
Apr 2315:50
Conference pass

Panel: Driving the future of rare disease R&D: A multi-stakeholder perspective

Clinical Development & Regulatory

"Driving the Future of Rare Disease R&D: A Multi-Stakeholder Perspective" brings together a diverse group of experts to discuss the evolving landscape of research and development in rare diseases. Featuring insights from pharmaceutical companies, healthcare providers, patient advocacy groups, and policymakers, the panel will explore the challenges and opportunities in accelerating breakthroughs for rare diseases. Key topics will include the role of innovation, patient-centered approaches, regulatory frameworks, and collaborative efforts across sectors. The discussion will highlight how multi-stakeholder engagement can drive more efficient, targeted solutions to meet the unique needs of rare disease patients, while addressing the financial, logistical, and ethical complexities of rare disease research.

Moderator: Patroski Lawson, Co-founder, The Just Society
Nick Davis, Managing Director, Changer Capital
Nevan Elam, Founder and Chief Executive Officer, Rezolute, Inc.
Theater 6 - Room 052A
Apr 2315:50
Conference pass

Panel: From launch to global markets: Best practices for commercializing orphan drugs and building capacity

Commercial

In this panel discussion, experts will share best practices for successfully commercializing orphan drugs and scaling them to global markets. The session will cover the entire lifecycle of orphan drug development, from initial launch strategies to navigating regulatory hurdles and building capacity in international markets. Panelists will explore key challenges such as pricing and reimbursement, market access, and distribution, while also highlighting successful case studies and lessons learned. Attendees will gain practical insights into creating sustainable commercialization strategies that ensure access to life-changing therapies for rare disease patients worldwide.

Reserved for Alexion Pharmaceuticals.

Moderator: Simone Seiter, Senior Partner, Simon-Kucher & Partners Strategy & Marketing Consultants GmbH
Raquel Cabo, Head of Patient Advocacy, Communications, Commercial strategy, Ovid Therapeutics
Grant Castor, SVP Commercial Strategy & Operations, Sentynl Therapeutics
Theater 7 - Room 052B
Apr 2315:50
Conference pass

Panel: Patient advocates driving rare drug development

Rare Advocacy

In this panel, patient advocates, caregivers, and community leaders will discussthe special sauce. This panel will leave you with actionable, tangible take-aways to improve therapeutic development, strengthen pipelines, build patient-driven company cultures, impact patients in need of treatment, and efficiently meet business goals through authentic and powerful patient partnerships.

This stand out panel will be an open dialogue with ideas to integrate the patient community into biotech process, and how new advocacy organizations can galvanize as a community to de-risk the orphan drug development process… IF we take this beyond the panel and into the process. Today.

Theater 1 - Hall C
Apr 2315:50
Conference pass

Panel: Indication selection considerations for orphan drugs with broad therapeutic potential

Advanced Therapies

With the tremendous progress in recent years of genetic screening and more sophisticated clinical diagnosis and biomarker approaches, broader populations of patients who share common pathologies and/or molecularetiologies are being stratified into subpopulations of orphan and rare diseases. This has enabled precision medicine approaches that, for example, can selectively target the underlying genetic driver of a disease. Moreover, in the past, a popular drug development strategy has been to test novel therapies in a subpopulation before expanding into the larger disease population. This expert panel will offer diverse perspectives on indication selection considerations and challenges for novel orphan drugs that have broad therapeutic potential for several rare disease patient subpopulations, such as clinical developmentstrategies,regulatory landscape, patient accessibility and the impact of the IRA on commercial models.

J. Michael Graglia, Co-Founder & Managing Director, Syngap Research Fund
Craig Martin, Founder, CEO, Orphan Therapeutics Accelerator
P.J. Brooks, Deputy Director of the NCATS Division of Rare Diseases Research Innovation, National Institutes of Health
Theater 5 - Room 051
Apr 2315:50
Conference pass

Panel: Unlocking the future: The convergence of AI, personalized Medicine, and genomics

AI & Digital Health

Unlocking the Future: The Convergence of AI, Personalized Medicine, and Genomics

AI and genomics are revolutionizing healthcare, accelerating drug discovery, optimizing treatments, and transforming patient outcomes. But how do we bridge the gap between innovation and real-world implementation? Join leading experts as they explore how AI-powered insights and multi-omics are driving precision medicine forward—while tackling critical challenges in regulation, access, and adoption. Don’t miss this dynamic discussion on the breakthroughs shaping the future of healthcare!

Durhane Wong-Rieger, President, Chief Executive Officer, Canadian Organisation for Rare Disorder & Rare Diseases International
Jörg Schüttrumpf, Chief Scientific Innovation Officer, Grifols
Theater 3 - Hall C
Apr 2315:50
Conference pass

Panel: The do's and don'ts of early access programs

Early Access Programs

Experienced panelists will share their experiences in designing, operating and closing out EAPS, with an in depth look at the success and failures encountered along the way. To be moderated by an expert EAP Ethicist that can provide additional context and situational learnings from her experience supporting a vast number of small and large pharmaceutical companies running EAPs.

Moderator: Alison Bateman-House, Assistant Professor, Division of Medical Ethics,, NYU Grossman School of Medicine
Donna Cowan, Director EAP, Stealth BioTherapeutics
Dorian Readnour, Vice President, International, Sarepta Therapeutics
Theater 4 - Room 050
Apr 2315:50
Conference pass

Panel: Funding futures: Evaluating investment potential in rare disease and orphan drug markets

Innovation & Partnerships

In this session, we will evaluate the investment potential within the rare disease and orphan drug markets, exploring the unique opportunities and challenges these sectors present. Attendees will gain insights into the growing demand for innovative treatments for underserved patient populations and the financial implications of developing therapies for rare conditions. We will also discuss the regulatory landscape, funding trends, and key factors influencing investment decisions. By examining the current investment climate and forecasting future trends, this session aims to provide a comprehensive understanding of how to navigate and capitalize on the evolving rare disease and orphan drug landscape.

Moderator: Oliver Barnes, US Pharmaceutical & Biotech Correspondent, Financial Times
Christine Brennan, Managing Director, Vertex Ventures HC
Theater 2
Apr 2316:35
Conference pass

Keynote: Clinical trial readiness

Keynotes

The panel discussion will center around the increasing number of Gene and cellular therapies that are entering clinical trials. Specifically in rare diseases the number of eligible patients is highlighted as a rate limiting issue for execution of the trial. While this is true, the following other issues will be discussed.

  • Site selection for trials requires appropriate expertise in final preparation of the therapeutic. For example, while some therapeutics are considered drugs, research pharamacies may have limited experience in preparation of such therapeutics. Many academic medical centers and health systems may lack this in house expertise.
  • Similarly appropriate application of regulatory and quality metrics need to be in place.
  • Appropriate expertise for each sub-specialist and time availability and training.
  • Finally, institutional support for all of the above.

Moderator: Dave Pearce, Chair, International Rare Diseases Research Consortium (IRDiRC)
Marshall Summar, Chief Executive Officer, Uncommon Cures
Keynote Stage - Hall C
Apr 2316:55
Conference pass

Keynote: Advancing rare disease therapies through an FDA Rare Disease Innovation Hub

Keynotes

Rare diseases, particularly ultra rare, require special considerations during clinical development. The Rare Hub has been a long awaited answer to the question "How do we improve the process for all stakeholders in developing therapies for the rare community". Spend time withlong time rare patient advocate Jenn McNary andAmy Comstock Rick, Director of the Rare Hub, moderated by Susan Winckler, CEO of Reagan-Udall and as they discuss near and long term goals and activities of the Hub. Learn how all stakeholders can continue to weigh in on Hub priorities and what we can expect over the coming year.

Amy Comstock Rick, Director of Strategic Coalitions, Rare Disease Innovation Hub, FDA
Jennifer McNary, Co-Founder, Canary Advisors
Keynote Stage - Hall C
Apr 2317:15
Conference pass

Keynote: The Rare Disease Playbook: Winning with Mindset, Strategy & Collaboration

Keynotes

Sponsored by Somebody to Talk To.

Dan Lier, Advocate/Patient/Speaker, Somebody To Talk To
Keynote Stage
Apr 2317:35
Conference pass

Chair person's closing remarks

Keynotes

To be announced

Hall C
Apr 2317:40
Conference pass

Cocktail reception

Break

This concludes Day 1 of the congress. Please join us in the Expo Hall for our cocktail reception.

Hall C

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Apr 248:00
Conference pass

Expo hall & registration opens

Keynotes

Expo hall & registration opens

Apr 248:30
Conference pass

Chair person opening remarks: Transforming the development and regulatory landscape to meet the needs of untreated rare diseases in the 21st century

Keynotes
Keynote stage - Hall C
Apr 248:50
Conference pass

Keynote: To be announced

Keynotes

Sponsored by Johnson & Johnson.

Moderator: Jayson Slotnik, Partner, Health Policy Strategies, LLC
Ron Bartek, President, Co-Founder, Friedreich's Ataxia Research Alliance
Keynote stage - Hall C
Apr 249:30
Conference pass

Keynote: Building the framework: A sustainable, effective, and equitable solution for Orphan Drugs

Keynotes

In this illuminating keynote panel, we will explore real experiences of navigating the regulatory and reimbursement framework at an EU and global level to bring innovative therapies to people with rare conditions. Leading stakeholders will share their insights on creating sustainable and effective models that ensure equitable access to life-saving therapies. Join us for this engaging session as we seek to redefine the future of orphan drug development and delivery, focusing on sustainability, equity, and innovation in the quest for better outcomes for patients with rare diseases.

  • How are leading stakeholders in the rare disease space leading and ensuring effective and sustainable models for orphan drugs?
  • How are we balancing innovation with access?
  • How are we collaborating with stakeholders and the rare disease community to build Real World Evidence
  • What are the approaches to meeting the needs of both US and European regulators in clinical trial design
Moderator: Oliver Barnes, US Pharmaceutical & Biotech Correspondent, Financial Times
Denise Scots Knight, Chief Executive Officer, Mereo Biopharma
Keynote stage - Hall C
Apr 2410:10
Conference pass

Networking, poster, & expo hall break

Break

Networking, poster, & expo hall break

Hall C
Apr 2410:35
Conference pass

Chair's opening remarks

Global Access

To be announced.

Theater 4 - Room 050
Apr 2410:35
Conference pass
Apr 2410:35
Conference pass

Chair's opening remarks

Pricing & Reimbursement
Theater 3 - Hall C
Apr 2410:35
Conference pass

Chair's opening remarks

Clinical Development & Regulatory
Theater 6 - Room 052A
Apr 2410:35
Conference pass

Chair's opening remarks

Commercial
Kevin Baruzzi, Partner, Simon-Kucher & Partners Strategy & Marketing Consultants GmbH
Theater 7 - Room 052B
Apr 2410:35
Conference pass

Chair's opening remarks

Rare Advocacy
Theater 1 - Hall C
Apr 2410:35
Conference pass

Chair's opening remarks

Innovation & Partnerships
Scott Baver, VP, Head of US Medical Affairs, ITF Therapeutics
Theater 2 - Hall C
Apr 2410:40
Conference pass

Panel: Optimizing Strategies for Orphan Drug Access and Reimbursement: Considerations for Raising Venture Capital through Commercialization

Pricing & Reimbursement

In this panel discussion, experts will share perspective best strategies for optimizing market access, pricing and reimbursement of orphan drugs. The session will cover considerations from early-stage drug development through commercial launch. Panelists will explore key challenges to developing and executing a multi-stakeholder strategy across multiple orphan therapeutic areas. Attendees will gain insights onto creating value-added market access and reimbursement strategies for investor and strategic stakeholders that bolster access to novel, life-changing therapies while ensuring corporate viability.

Theater 3 - Hall C
Apr 2410:40
Conference pass

Presentation: Bridging the gap: Accelerating rare disease clinical trial recruitment through telegenetics

Diagnosis & Drug Discovery

Sponsored by Genome Medical.

Sara Riordan, Vice President, Strategy, Genome Medical
Natalie M. Beck, MGC, CGC, Senior Manager, Clinical Trials and RWD, Genome Medical
Theater 5 - Room 051
Apr 2410:40
Conference pass

Presentation: How the legislative branch can assist in accessing treatment for Rare Diseases

Global Access
Rosangela Wolff Moro, Congresswoman, Federal Chamber of Deputies, São Paulo, Brazil
Theater 4 - Room 050
Apr 2410:40
Conference pass

Presentation: Starting with the end in mind: Regulatory and clinical development of gene therapies

Clinical Development & Regulatory
Andrew Steinsapir, Acting Chief Technology Officer, Apertura Gene Therapy
Theater 6 - Room 052A
Apr 2410:40
Conference pass

Fireside chat: Rare Find: Patient identification in rare immune deficiency

Commercial
Scott Harwood, Director, Check Rare
Jill Elliott, Vice President, Marketing, X4 Pharmaceuticals
Theater 7 - Room 052B
Apr 2410:40
Conference pass

Presentation: Breaking barriers and securing access to novel Treatments – A blueprint for dare disease advocacy

Rare Advocacy
Theater 1 - Hall C
Apr 2410:40
Conference pass

Company presentation: Efficacy and Safety of CBL-514, a Novel Lipolytic Injectable, in the Treatment of Dercum’s Disease: Phase 2 Study Results

Innovation & Partnerships
Timothy Chen, Medical Director, Caliway Biopharmaceuticals
Theater 2 - Hall C
Apr 2411:00
Conference pass

Panel: Validation of a machine learning predictive model for the identification of APDS patients

Diagnosis & Drug Discovery

This presentation showcases innovative methods validated against the newly assigned ICD-10 code for Activated PI3K Delta Syndrome.

Sponsored by EVERSANA.

Theater 5 - Room 051
Apr 2411:00
Conference pass

Presentation: Where technology meets Human: Healthcare. Numbers. Money. People

Global Access

Sponsored by Volv.

Christopher Rudolf, Founder and Chief Executive Officer, Volv Global
Theater 4 - Room 050
Apr 2411:00
Conference pass

Panel: To be announced

Clinical Development & Regulatory

Sponsored by Lumanity.

Theater 6 - Room 052A
Apr 2411:00
Conference pass

Presentation: Patient centric approach for successful recruitment of Orphan Disease patients in Japan

Commercial

Sponsored by 3H Medi Solution Inc.

Theater 7 - Room 052B
Apr 2411:00
Conference pass

Presentation: Reserved for supporting partner

Rare Advocacy

Reserved for supporting partner.

Theater 1
Apr 2411:00
Conference pass

Presentation: Reserved for supporting partner

Innovation & Partnerships

Reserved for supprting partner.

Theater 2 - Hall C
Apr 2411:20
Conference pass

Panel: To be announced

Pricing & Reimbursement

Sponsored by Johnson & Johnson.

Theater 3 - Hall C
Apr 2411:20
Conference pass

Presentation: FIFARMA Patient WAIT Indicator – Orphan Drugs

Global Access
Diego Guarin, Executive Director, Regional Market Access, Merck
Theater 4 - Room 050
Apr 2411:20
Conference pass

Fireside chat: Engaging the rare disease patient online

Commercial
Marcella Debidda, President Patient Insights & Clinical Solutions, BioNews Clinical
Ethan Ash, Senior VP of Business Development, BioNews
Theater 7 - Room 052B
Apr 2411:20
Conference pass

Presentation: Advancing rare disease policy and equity in Latin America: Challenges and opportunities

Rare Advocacy
Daniel Wainstock, Researcher and Rare Disease Advocate, PUC-Rio
Theater 1 - Hall C
Apr 2411:20
Conference pass

Panel: Early engagement and partnership between advocacy and industry

Innovation & Partnerships

This session will examine the critical role of early-stage collaboration between advocacy groups and industry stakeholders in the development of orphan drugs and treatments for rare diseases. With the unique challenges posed by these conditions—including small patient populations, high development costs, and regulatory complexities—early engagement between patient advocates and pharmaceutical companies is essential to drive innovation, expedite regulatory pathways, and improve access to life-saving treatments.

Key topics will include the role of early dialogue in shaping clinical trials, the impact of advocacy efforts on regulatory approvals, and strategies for addressing the financial and logistical barriers that often impede progress in rare disease treatments. Participants will leave with practical strategies for fostering effective partnerships and lessons on how to leverage collaboration for meaningful impact in the orphan drug space.

Theater 2 - Hall C
Apr 2411:40
Conference pass

Presentation: Reserved for supporting partner

Global Access

Reserved for supporting partner.

Theater 4 - Room 050
Apr 2411:40
Conference pass

Presentation: To be announced.

Diagnosis & Drug Discovery

Reserved for Sanofi.

Theater 5 - Room 051
Apr 2411:40
Conference pass

Fireside Chat: Identification of patient selection genomic biomarkers of liver safety from the UK Biobank database

Clinical Development & Regulatory
Theater 6 - Room 052A
Apr 2411:40
Conference pass

Panel: Fast track to uptake: Building treatment and trial readiness

Commercial

Sponsored by 3H Medi Solution Inc.

Moderator: Josie Godfrey, Director, JG Zebra Consulting
Emma Eatwell, Global Practice Director, Health & Life Sciences, Global Counsel
Fleur Chandler, Patient Advocate, Duchenne U.K.
Theater 7 - Room 052B
Apr 2411:40
Conference pass

Presentation: Reserved for supporting partner

Rare Advocacy

Reserved for supporting partner.

Theater 1
Apr 2412:00
Conference pass

Panel: Addressing common barriers in rare hereditary, progressive adult-onset diseases

Diagnosis & Drug Discovery

This panel will be focused raising awarness about adult onset, genetic, neurodegenerative diseases. We will discuss roadblocks leading to delayed diagnosis and areas of opportunity to change this pattern with a focus on genetic testing and differential diagnosis. We will highlight and explore the critical importance of recognizing the unique challenges for those impacted by diseases that hit adults in the prime of their lives and specifically those with limited or no treatment options that may lead to cognitive decline and dementia. We hope this panel will encourage further discussion resulting in a tighter bond, strength in numbers, louder voice in the rare community and a strengthening coalition and call to action.

Moderator: Cynthia Cassandro, Vice President, Patient Advoacy, Vigil neuroscience
Lauren Holder, Producer/Host, Help 4 HD Live Podcast, Help 4 HD
Jean Swidler, Executive Director, End the Legacy
Theater 5 - Room 051
Apr 2412:00
Conference pass

Panel: Innovative approaches to provide access to rare disease medicines in LMICs

Global Access
Ramaiah Muthyala, Professor/Director at University of Minnesota, President and Chief Executive Officer,, Indian organization for Rare diseases
Ellen Cho, Senior Director, Specialty Programs, Direct Relief
Diego Fernando Gil Cardozo, President, Enfermedades Raras en el Caribe y América Latina (ERCAL)
Theater 4 - Room 050
Apr 2412:00
Conference pass

Presentation: “Copays Kill”: How benefit design and “Fraud” Enforcement hurt rare disease and other patients

Pricing & Reimbursement
William Sarraille, Adjunct Professor, University of Maryland Francis King Carey School of Law
Theater 3 - Hall C
Apr 2412:00
Conference pass

Panel: Finding the optimal pathway to market and moving the bar for regulatory approval

Clinical Development & Regulatory

Navigating the regulatory landscape is one of the most complex and critical aspects of bringing new therapies to market, especially in the context of innovative treatments, rare diseases, and cutting-edge technologies. This panel will delve into strategies for finding the optimal regulatory pathway to bring life-saving drugs and biologics to market faster and more efficiently, while maintaining the highest standards of safety and efficacy.

The discussion will explore the evolving regulatory frameworks, from accelerated approval programs to adaptive trial designs and breakthrough therapy designations, and how these pathways can be leveraged to speed up the development of groundbreaking treatments. Panelists, including regulatory experts, industry leaders, and policymakers, will share insights on how regulatory agencies are evolving to meet the challenges of rare drug development, and how companies can navigate these changes to achieve faster approvals.

Moderator: Maryam Mokhtarzadeh, Senior Director Regulatory Strategy, REGENXBIO
Stacey Frisk, Executive Director, Rare Disease Company Coalition
Rumi Desai, Director, Global Regulatory Strategy, Amgen, Inc.
Teresa Brandt, VP, Regulatory Affairs, Avidity Biosciences
Theater 6 - Room 052A
Apr 2412:00
Conference pass

Fireside chat:The opportunities and challenges around newborn screening policies for rare diseases

Rare Advocacy
Matthew Prentice, Director of State Policy, Immune Deficiency Foundation
Theater 1 - Hall C
Apr 2412:00
Conference pass

Panel: How can smaller biotechs, providers, and payers engage with patients?

Innovation & Partnerships

Effective patient engagement is essential for the success of any healthcare innovation, but smaller biotechs, providers, and payers often face unique challenges in building meaningful, lasting relationships with patients. This panel will explore the practical strategies and tools these stakeholders can use to directly engage patients, gather insights, and ensure that their needs and preferences are integrated into the development, delivery, and reimbursement of orphan drugs.

Panelists will share real-world examples and actionable advice on how smaller companies and organizations can break through the noise and create a patient-centered approach that resonates with the communities they serve. Discussion will focus on building trust, ensuring transparency, and fostering collaboration with patient advocacy groups to drive better outcomes for patients, while also meeting business and regulatory objectives.

Theater 2 - Hall C
Apr 2412:20
Conference pass

Presentation: Burn to beauty- The lessons learned from the burn unit

Rare Advocacy
Theater 1 - Hall C
Apr 2412:40
Conference pass

Networking, poster, & expo hall break

Break

Networking, poster, & expo hall break

Hall C
Apr 2413:30
Conference pass

Short break before track sessions resume

Break

Short break before track sessions resume

Apr 2413:35
Conference pass
Apr 2413:35
Conference pass
Apr 2413:35
Conference pass

Chair's opening remarks

Global Access

To be announced.

Theater 4 - Room 050
Apr 2413:35
Conference pass

Chair's opening remarks

Clinical Development & Regulatory
Theater 6 - Room 052A
Apr 2413:35
Conference pass

Chair's opening remarks

Commercial
Kevin Baruzzi, Partner, Simon-Kucher & Partners Strategy & Marketing Consultants GmbH
Theater 7 - Room 052B
Apr 2413:35
Conference pass

Chair's opening remarks

Rare Advocacy
Theater 1 - Hall C
Apr 2413:35
Conference pass

Chair's opening remarks

Innovation & Partnerships
Scott Baver, VP, Head of US Medical Affairs, ITF Therapeutics
Theater 2 - Hall C
Apr 2413:40
Conference pass

Fireside chat: Expanding access to health and care for Rare Diseases: A comprehensive approach to overcoming medical, social, and economic barriers

Global Access

WHO speaker to be announced.

Dave Pearce, Chair, International Rare Diseases Research Consortium (IRDiRC)
Theater 4 - Room 050
Apr 2413:40
Conference pass

Presentation: Breaking barriers- Innovations in pediatric genetic disease

Diagnosis & Drug Discovery
Rebecca Reimers, Medical Geneticist, Rady Children's Institute for Genomic Medicine
Theater 5 - Room 051
Apr 2413:40
Conference pass

Presentation: Framework for characterizing impact of patient involvement in health technology assessment

Payers & HTA
Theater 3
Apr 2413:40
Conference pass

Panel: Engaging emerging markets in orphan drug clinical trials is critical for rare diseases

Clinical Development & Regulatory

Panelists to be announced.

Moderator: Harsha Rajasimha, Founder and Chairman, IndoUSRare
Theater 6 - Room 052A
Apr 2413:40
Conference pass

Presentation: At the crossroads of innovation: Gene therapies and market access for lifesaving solutions

Commercial
Swami Subramanian, Sr. Director, US/Global Pricing, Regeneron Pharmaceuticals Inc
Theater 7 - Room 052B
Apr 2413:40
Conference pass

Presentation: Life on a waterbed; the ripple effects of trauma

Rare Advocacy

In the journey of living with a rare disease, the effects often extend far beyond the individual patient, creating a profound impact on the entire family unit. This compelling talk will explore the emotional and psychological trauma experienced by families navigating the complexities of rare illness. Using the metaphor of a waterbed, I will illustrate how the ripples of trauma can shape family dynamics, relationships, and overall well-being. Join us to understand the intricate interplay of trauma and healing and discover ways to create a nurturing environment that empowers both patients and their families on this challenging journey.

Theater 1 - Hall C
Apr 2413:40
Conference pass

Panel: Bridging the gap: The rare disease media landscape and industry partners

Innovation & Partnerships

Industry partners recognize the need to learn from patient and caregiver's stories of their lived experience. Patient and caregiver stories are the heart of rare disease insights. Patients and caregivers have created authentic, compelling media - from blogs to podcasts to films - offering an invaluable window into the rare disease experience. Tapping into the emerging and increasingly robust media environment specific to rare disease stories can be a first step for patient engagement. Storytelling isn't just advocacy and it can be a key asset to industry supporting and developing meaningful relationships with these creators - who have the pulse of the community. Publicly available and searchable sources of rare disease patient stories represent an under-utilized opportunity for industry. The panel will outline ways industry can make use of these media outlets as part of their social listening and pre-engagement plans to set themselves up for more meaningful connection, and authentic engagement.

Theater 2 - Hall C
Apr 2414:00
Conference pass

Presentation: EU JCA - implications for orphan medicines

Payers & HTA

Sponsored by RTI Health Solutions.

Rohit Borker, Senior Vice President, Value Access, Health Economics & Outcomes Research, RTI Health Solutions
Theater 3
Apr 2414:00
Conference pass

Presentation: Reserved for supporting partner

Diagnosis & Drug Discovery

Reserved for supporting partner.

Room 051
Apr 2414:00
Conference pass

Presentation: Reserved for supporting partner

Payers & HTA

Reserved for supporting partner.

Theater 3
Apr 2414:00
Conference pass

Presentation: To be announced

Global Access

To be announced

Room 050
Apr 2414:00
Conference pass

Fireside chat: Building patient access services

Commercial
Jennifer Shumsky, Founder and Principal, JLS Consulting LLC
Theater 7 - Room 052B
Apr 2414:00
Conference pass

Panel: Mental health and rare disease: How to incorporate mental health in your organization and clinical trial programs?

Rare Advocacy
Theater 1- Hall C
Apr 2414:20
Conference pass

Panel: Navigating change: Evolving policy landscapes for rare disease access

Global Access
Theater 4 - Room 050
Apr 2414:20
Conference pass

Panel: Newborn screening: Innovations, challenges, and future directions

Diagnosis & Drug Discovery

With new and innovative treatments, better clinical and research options and emerging registry options, newborn screening has become an important discussion topic in the rare disease community. This multi-stakeholder panel will talk through the current state and federal landscape of NBS, and then turn to projections on the initiatives that could shape the future of NBS. Hear from patient advocates on the benefits of early screening and diagnosis, and from an industry partner about the work being done to support the addition of conditions to federal and state testing panels.

Theater 5 - Room 051
Apr 2414:20
Conference pass

Panel: To be announced

Payers & HTA

Sponsored by RTI Health Solutions.

Theater 3
Apr 2414:20
Conference pass

Presentation: How do you apply the principles of FDA’s Project Optimus Initiative to rare oncology and non-oncology indications?

Clinical Development & Regulatory
Theater 6 - Room 052A
Apr 2414:20
Conference pass

Panel: Diversity in clinical trials and product planning to support access and commercialization (later stage)

Commercial

As the healthcare landscape becomes more global and inclusive, ensuring diversity in clinical trials and product planning is crucial for developing orphan drugs that are safe, effective, and accessible to all populations. This panel will address the importance of incorporating diverse patient populations in clinical trials and how such efforts impact product development, regulatory approval, and commercialization—particularly in later-stage drug development.

Panelists will explore how diverse representation in clinical trials—including age, gender, race, ethnicity, and socio-economic status—can lead to more reliable data, better health outcomes, and ultimately, broader market access. The discussion will also highlight how inclusive product planning and real-world evidence collection play a critical role in supporting market entry and improving commercialization strategies, especially for products targeting underserved or minority communities.

Moderator: Raquel Cabo, Head of Patient Advocacy, Communications, Commercial strategy, Ovid Therapeutics
Melissa Penn, Director Patient Engagement Research & Development, Bayer
Jenifer Waldrop, Executive Director, Rare Disease Diversity Coalition, BWHI
Theater 7 - Room 052B
Apr 2414:20
Conference pass

Panel: Next-generation of biopreneurs: The future of rare disease & innovation

Innovation & Partnerships

Other speakers to be announced.

Theater 2 - Hall C
Apr 2414:40
Conference pass

Presentation: Integrating patient-reported outcomes into clinical and regulatory pathways for rare diseases: Challenges and solutions

Clinical Development & Regulatory
Theater 6 - Room 052A
Apr 2414:40
Conference pass

Panel: Rare Leadership: Women redefining healthcare

Rare Advocacy

"Rare Leadership: Women Redefining Healthcare," assembles four distinguished leaders from the Rare Women podcast,which launched January 11th, 2025. Each one pioneers change to improve healthcare and address critical rare disease and biopharma needs. They are united by a commitment to innovative therapies, patient-centered care, and sustainable healthcare solutions. Their backgrounds are diverse, with expertise in healthcare, biopharma, and biotech. They have unique perspectives on resolving rare disease challenges and improving healthcare for underserved communities. Their personal stories and professional insights will inspire others to shape the healthcare of tomorrow.

We’ll discuss:

Overcoming barriers in the healthcare industry

● Creating impactful solutions for rare diseases

● AI’s usefulness in healthcare innovation

● Strategies to drive meaningful change in traditionally male-dominated fields

● The power of collaboration in healthcare innovation

Andree Bates, Chief Executive Officer, Eularis Ltd
Glenna Crooks, PhD, Founder and CEO, Strategic Health Policy International, Inc
Theater 1- Hall C
Apr 2415:00
Conference pass

Panel: Evolving landscape on patient involvement in rare disease HTA

Payers & HTA

As the EU Health Technology Assessment (HTA) Regulation reshapes the way health technologies are evaluated across Europe, it brings both new opportunities and challenges for patient involvement in the decision-making process. This regulation emphasizes the importance of integrating patient perspectives into the assessment of treatments, which raises key questions about what successful patient involvement looks like. Effective engagement means ensuring that patients’ lived experiences, needs, and priorities are not only heard but meaningfully influence outcomes. A successful model of involvement goes beyond consultation to co-creation, where patients actively contribute to the design and interpretation of assessments. However, the roles of individual patients and patient organizations in this process differ. Individual patients bring personal insights and lived experience, often providing powerful testimony about the real-world impact of treatments. In contrast, patient organizations represent a broader community of patients, advocating for collective interests and ensuring that diverse patient voices are considered. This panel will explore these dynamics, discussing how individual and organizational contributions can complement each other to create a more patient-centered approach to HTA, and the implications this holds for the future of healthcare policy and practice across Europe.

Moderator: Victor Maertens, Government Affairs Director, European Confederation of Pharmaceutical Entrepreneurs (Belgium)
Durhane Wong-Rieger, President, Chief Executive Officer, Canadian Organisation for Rare Disorder & Rare Diseases International
Francis Pang, SVP Global Market Access and International Geographic Expansion, Orchard Therapeutics
Theater 3
Apr 2415:00
Conference pass

Presentation: Navigating the unknown: Strategies for investigating variants of uncertain significance in rare disease

Diagnosis & Drug Discovery
Theater 5 - Room 051
Apr 2415:20
Conference pass

Panel: Patient Access: Exploring issues creating barriers for patients in health care coverage, and potential solutions

Global Access
Jayson Slotnik, Partner, Health Policy Strategies, LLC
William Sarraille, Adjunct Professor, University of Maryland Francis King Carey School of Law
Bridget Seritt, Founder, Advocates for Compassionate Therapy Now
Room 050
Apr 2415:20
Conference pass

Panel: Unveiling promising strategies: Drug discovery for rare disease treatment

Diagnosis & Drug Discovery
Alicia Fiscus, Head of Global Regulatory Affairs and QA, Rhythm Pharmaceuticals
Moderator: Chelsea Trengrove, CEO and Cofounder, Neoclease
Theater 5 - Room 051
Apr 2415:20
Conference pass

Presentation: The importance of validation and belief when living with a rare disease

Rare Advocacy
Theater 1- Hall C
last published: 13/Mar/25 19:35 GMT

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