2025 Conference Agenda
Boston, MA, 22 - 24 April 2025
Schedule
Create your personal agenda –check the favourite icon
Expo hall & registration opens
Expo hall & registration opens
Opening remarks: A way forward: The Creating Hope Reauthorization Act, 2030 and beyond
Reserved for Senator
Keynote: To be announced
Reserved for Title Sponsor
Keynote: Repositioning dugs for Rare Diseases: Unleashing the potential of shelved assets in pharma and biotech
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.
Keynote: Sponsored by Parexel
Speakers to be announced. Sponsored by Parexel.
Networking, poster, and expo break
Networking, poster, and expo break
Fireside chat: Implementing patient engagement strategies - The importance of meaningful engagement in R&D
Presentation: Precision planning: Harnessing accurate pre-launch forecasts for Orphan Drug success
Reserved for Rocket Pharma
Presentation: Community building & elevating the patient voice
Presentation: To be announced
To be announced
Presentation: The use of artificial intelligence and machine learning to drive innovation for rare disease treatments
To be announced
Presentation: Overcoming stigma and bias for Sickle Cell Disease - How it impacts access to treatment
Company presentation: Flag Therapeutics
Company presentation 2
Reserved for biotech
Presentation: To be announced
Reserved for supporting partner
Presentation: To be announced
Reserved for supporting partner
Presentation: To be announced
Reserved for supporting partner
Presentation: Barriers in site identification: Navigating challenges in advanced therapy trials
Sponsored by Premier Research.
Presentation: ElevateHealth: Paradigm shifts to drive change and accelerate rare disease drug development
Sponsored by Volv Global.
Fireside Chat: Hot topics in EAP
Company presentation 3: Advancing therapeutic discovery for the rare genetic neurodevelopmental disorders
Company presentation 4
Reserved for Biotech
Presentation: Ultra-Rare: Overcoming challenges in clinical development
Presentation: Title to be announced
Fireside Chat: Understanding and evaluating PAG capabilities
Reserved for Julianne Mills, Senior Director, Therapeutic Strategy Lead, Rare Disease, Worldwide Clinical Trials
Presentation: The Neuro-Generation: Action potential of platform approaches and NextGen advocates
Presentation: Leveraging AI in large language models to diagnose undiagnosed rare diseases
Presentation: Bionical Emas
Sponsored by Bionical Emas.
Company presentation 5
Reserved for Biotech
Company presentation 6
Reserved for Biotech
Presentation: To be announced
Reserved for supporting partner
Presentation: To be announced
To be announced
Presentation: To be announced
Reserved for supporting partner.
Presentation: Sponsored by Parexel
Sponsored by Parexel.
Presentation: To be announced
Reserved for supporting partner.
Presentation: To be announced
Reserved for supporting partner.
Presentation: To be announced
Reserved for supporting partner.
Keynote: Reserved for supporting partner
Reserved for supporting partner
Networking, posters, & expo hall break
Networking, posters, & expo hall break
Roundtable 1: Learnings from clinical trials designs in rare diseases
Sponsored by Alfasigma.
Roundtable 10: To be announced
To be announced
Roundtable 2: To be announced
Reserved for myTomorrows
Roundtable 3: Gene therapy for rare diseases: Clinical trial experiences and lessons learned
Sponsored by PPD.
Roundtable 4: Sponsored by Parexel
Sponsored by Parexel
Roundtable 5: Bionical Emas
Sponsored by Bionical Emas.
Roundtable 6: To be announced
Reserved for Check Rare
Roundtable 7: EAP Documents needing patient input: Discussion and list creation
Roundtable 8: Building and advancing research capabilities for ultra-rare disease foundations and parents
Roundtable 9: Finding the common in rare: Unlocking the power of the parent voice
Roundtables end. Short break before track sessions resume.
Roundtables end. Short break before track sessions resume.
Presentation: Reserved for Allucent
Sponsored by Allucent.
Presentation: To be announced
Reserved for supporting partner.
Presentation: To be announced
Reserved for supporting partner.
Presentation: Multifaceted approach for quantification and enzymatic activity of Iduronate‐2‐Sulfatase to support developing gene therapy for hunter syndrome
Presentation: To be announced
Reserved for supporting partner.
Presentation: Reserved for Sciensus
Sponsored by Sciensus.
Presentation: To be announced
Reserved for supporting partner.
Presentation: Harnessing real-world evidence and data in shaping clinical development pathways
Presentation: Navigating launch challenges: Best practices for Orphan Drug market entry
Presentation: Beyond advocacy: The power of patient-supporting organizations
Presentation: To be announced
Reserved for supporting partner.
Presentation: To be announced
Reserved for Rebate Solutions
Presentation: You don’t need a vendor to run an EAP
Presentation: How are we launching innovation in Europe?
Presentation: To be announced
Reserved for supporting partner.
Presentation: Establishing ITF Therapeutics: Learnings from year one
Fireside Chat: ARSACS (Ataxia Charlevoix-Saguenay): Finding solutions for rare disease patients
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.
Fireside chat: Novel immunotherapies for Glioblastoma
Presentation: Beyond patient reported outcomes with AI and remote data capture
Presentation: What can companies compliantly do in an EAP?
Presentation: To be announced
Reserved for supoorting partner.
Panel: Driving the future of rare disease R&D: A multi-stakeholder perspective
"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.
Panel: From launch to global markets: Best practices for commercializing orphan drugs and building capacity
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.
Panel: Patient advocates driving rare drug development
Patient advocates play a crucial and transformative role in accelerating the availability of treatments for rare diseases. This panel will explore how patient advocates, are shaping the landscape of drug discovery, clinical trials, and regulatory approval.The session will highlight the power of patient advocacy in raising awareness, driving funding, and influencing policy decisions to prioritize rare diseases that have traditionally been overlooked by the pharmaceutical industry.
Panel: Indication selection considerations for orphan drugs with broad therapeutic potential
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.
Panel: Unlocking the future: The convergence of AI, personalized Medicine, and genomics
In this session, we will explore the latest advancements in precision medicine, highlighting the potential benefits these innovative therapies have over existing standard treatments. Real-life patient stories will be shared, illustrating how current regulatory, reimbursement, and clinical practice guidelines are hindering access to personalized medicine for many individuals. We will also discuss actionable solutions and propose steps to overcome these barriers, ensuring more patients can benefit from tailored treatments.
Panel: The do's and don'ts of 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.
Panel: Funding futures: Evaluating investment potential in rare disease and orphan drug markets
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.
Short break before afternoon keynotes
Please follow signage to the keynote stage.
Keynote: Shaping the future of rare: The role of advocacy and regulation
Reserved for FDA Commissioner
Keynote: Advancing rare disease therapies through an FDA Rare Disease Innovation Hub
Reserved forAmy Comstock Rick.
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 with Susan Winckler, CEO of Reagan-Udall and Amy Comstock Rick, Director of the Rare Hub, moderated by long time rare patient advocate Jenn McNary, 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.
Keynote panel: Reserved for supporting partner
Reserved for supporting partner.
Chair person's closing remakrs
To be announced
Cocktail reception
This concludes Day 1 of the congress. Please join us in the Expo Hall for our cocktail reception.
Create your personal agenda –check the favourite icon
Expo hall & registration opens
Expo hall & registration opens
Chair person opening remarks
To be announced
Keynote: Reserved for supporting partner
Reserved for supporting partner.
Keynote: Clinical trial readiness
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.
Keynote: Building the framework: A sustainable, effective, and equitable solution for orphan drugs
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
Networking, poster, & expo hall break
Networking, poster, & expo hall break
Chair's opening remarks
To be announced.
Chair's opening remarks
To be announced.
Chair's opening remarks
To be announced
Chair's opening remarks
Chair's opening remarks
To be announced
Chair's opening remarks
To be announced.
Chair's opening remarks
To be announced.
Presentation: How can lawmakers expand access to treatment for rare diseases?
Presentation: Reserved for supporting partner
Reserved for supporting partner.
Presentation: Title to be announced
Presentation: Starting with the end in mind: Regulatory and clinical development of gene therapies
Fireside chat: Rare Find: Patient identification in rare immune deficiency
Presentation: To be announced
To be announced.
Presentation: How will the inflation reduction act impact people living with rare disease?
Presentation: Beyond SBIRs: NIH as your technology development and commercialization partner
Panel: Addressing common barriers in rare hereditary, progressive adult-onset diseases
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.
Presentation: Reserved for supporting partner
Reserved for supporting partner.
Presentation: Reserved for supporting partner
Reserved for supporting partner.
Fireside chat: ElevateHealth: Driving for change to accelerate rare disease drug development
Sponsored by Volv Global.
Presentation: Patient centric approach for successful recruitment of Orphan Disease patients in Japan
Sponsored by 3H Medi Solution Inc.
Presentation: Reserved for supporting partner
Reserved for supporting partner.
Presentation: Reserved for supporting partner
Reserved for supprting partner.
Presentation: “Copays Kill”: How benefit design and “Fraud” Enforcement hurt rare disease and other patients
Presentation: FIFARMA Patient WAIT Indicator – Orphan Drugs
Fireside Chat: Identification of patient selection genomic biomarkers of liver safety from the UK Biobank database
FDA representative to be announced.
Fireside chat: Engaging the rare disease patient online
Presentation: Advancing rare disease policy and equity in Latin America: Challenges and opportunities
Panel: Early engagement and partnership between advocacy and industry
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.
Presentation: Reserved for supporting partner
Reserved for supporting partner.
Presentation: Reserved for supporting partner
Reserved for supporting partner.
Presentation: Reserved for supporting partner
Reserved for supporting partner.
Presentation: Reserved for supporting partner
Reserved for supporting partner.
Presentation: Reserved for supporting partner
Reserved for supporting partner.
Presentation: Reserved for supporting partner
Reserved for supporting partner.
Panel: Innovative approaches to provide access to rare disease medicines in LMICs
Panel: Patient access in CGT for rare disease – How do we improve and optimize product adoption?
Panelists to be announced.
Panel: Unveiling promising strategies: Drug discovery for rare disease treatment
Panel: Finding the optimal pathway to market and moving the bar for regulatory approval
FDA representative to be announced.
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.
Panel: Fast track to uptake: Building treatment and trial readiness
Other panelists to be announced.
Fireside chat: Title to be announced
Panel: How can smaller biotechs, providers, and payers engage with patients?
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.
Presentation: Working with lawmakers on Rare Disease approval legislation
Keynote panel & screening: Reserved for BBC Storyworks Commercial Productions
Reserved for BBC Storyworks Commercial Productions.
Networking, poster, & expo hall break
Networking, poster, & expo hall break
Short break before track sessions resume
Short break before track sessions resume
Chair's opening remarks
To be announced.
Chair's opening remarks
To be announced.
Chair's opening remarks
To be announced.
Chair's opening remarks
To be announced
Chair's opening remarks
To be announced.
Chair's opening remarks
To be announced.
Chair's opening remarks
To be announced.
Fireside chat: Expanding access to health and care for Rare Diseases: A comprehensive approach to overcoming medical, social, and economic barriers
WHO speaker to be announced.
Presentation: Breaking barriers- Innovations in pediatric genetic disease
Presentation: Framework for characterizing impact of patient involvement in health technology assessment
Panel: Engaging emerging markets in orphan drug clinical trials is critical for rare diseases
Panelists to be announced.
Presentation: At the crossroads of innovation: Gene therapies and market access for lifesaving solutions
Panel: Mental health and rare disease: How to incorporate mental health in your organization and clinical trial programs?
Panel: Bridging the gap: The rare disease media landscape and industry partners
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.
Presentation: Reserved for supporting partner
Reserved for supporting partner.
Presentation: Reserved for supporting partner
Reserved for supporting partner.
Fireside chat: Building patient access services
Panel: Evolving landscape on patient involvement in rare disease 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.
Panel: Newborn screening: Innovations, challenges, and future directions
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.
Panel: Diversity in clinical trials and product planning to support access and commercialization (later stage)
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.
Panel: Rare Leadership: Women redefining healthcare
"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
Panel: Next-generation of biopreneurs: The future of rare disease & innovation
Other speakers to be announced.
Presentation: EU JCA - implications for orphan medicines
Presentation: Navigating the unknown: Strategies for investigating variants of uncertain significance in rare disease
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