2025 Conference Agenda
Boston, MA, 22 - 24 April 2025
Schedule
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Chairperson's opening remarks
Chairperson's opening remarks
Chairperson's opening remarks
Fireside chat: The value of patient experience data to advance rare disease research
Presentation: Stop, collaborate & listen: Bridging gaps to accelerate research in Huntington’s Disease
Presentation: The health benefits, costs, and cost-effectiveness of ultraorphan drugs
Workshop 1: Breaking into Europe: Partnerships that propel U.S. biotechs to orphan drug success
Sponsored by Sciensus.
Presentation: Developments in access to care policy for the rare disease community
Presentation: Participation in clincial trials for rare disease
Fireside chat: Changing the Playing Field for Real World Data - Patient Quality of Life though data analytics and AI
Presentation: Advocating for patient access to therapy at every stage of the total product life cycle
Workshop: Applications of the FasterCures Research Partnership Maturity Model
Panel: Ethics and Strategies for Returning Individual Patient Data collected in clinical research
Presentation: Navigating the complexities of accessing emerging therapies across state borders
Workshop: The commercial forecast as a strategy-driver
This workshop will exlore creating patient-based forecasts which quantify the impacts of access, field reimbursement, marketing and other investments, all while navigating within the data-scarce orphan world.
Sponsored by Blueprint Orphan.
Presentation: Aligning policy for optimal access for gene therapies - Availability vs Accessibility
Afternoon break
Afternoon break before pre-conference sessions resume.
Chairperson's opening remarks
Chairperson's opening remarks
Chairperson's opening remarks
Presentation: Illuminating ultra-rare disease journeys: Harnessing real-world data and advanced analytics to identify the undiagnosed
Presentation: Precision targeting of the regulatory genome: Advancing cell state reprogramming in disease
Workshop 3: The FDA AI in drug development guidance and orphan drug development
Workshop: Medicare IRA practical experience on stakeholder value for orphan conditions
In this workshop, the actuarial and clinical experts will share their experiences and data. The Inflation Reduction Act (IRA) places greater financial liability on both biotech and Medicare Plan Sponsors. The experts will share their experiences and data on how the IRA influences Medicare stakeholders. The workshop will highlight practical solutions to engage stakeholder value and provide payer insights into reimbursement challenges for the biotech industry.
Presentation: Modeling and Simulation (M&S) in next-gen therapies: Accelerating innovation through insight
Workshop: Patient Registries: A practical approach for patient foundations
Presentation: Development of a gene therapy for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay; challenges and success
Presentation: Advancing the use of Peptide-Conjugated Oligonucleotides to target Neuromuscular Disorders
Private workshop: Mind the gaps: Navigating the patient access journey in rare disease
Private workshop sponsored by BGB Group.
Workshop 4: How industry partners support the mental health needs of rare disease communities: A mutually beneficial investment
Workshop: Bridging the gap: Shaping the future of individual data return in clinical trials
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Expo hall & registration opens
Expo hall & registration opens
Opening remarks: Today’s policies will make or break tomorrow’s Rare Disease pipelines
Keynote: Early intervention: The critical path in rare diseases
Sponsored by Sanofi.
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. 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: Vision 2030: Charting a bright future for rare medicine
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
Networking, poster, and expo break
Networking, poster, and expo break
Chairperson's opening remarks
Chairperson's opening remarks
Chairperson's opening remarks
Chairperson's opening remarks
Chairperson's opening remarks
Chairperson's opening remarks
Chair's opening remarks
Fireside chat: The overlooked conversation: Disability and its impact on clinical trial participation in rare diseases
Panel: The science of patient and physician activation – how health literacy and learning models can be harnessed to create commercial momentum
Sponsored byHavas Life Rare.
Presentation: The heart of drug development: Building community and empowering the patient voice
Presentation: Multifaceted approach for quantification and enzymatic activity of Iduronate‐2‐Sulfatase to support developing gene therapy for hunter syndrome
Panel: Where technology meets Human: Redefining patient personalisation
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.
Presentation: Overcoming stigma and bias for Sickle Cell Disease - How it impacts access to treatment
Company presentation: DIPG: a fatal neglected pediatric cancer
Company presentation: Allogeneic Treg cell therapies for rare autoimmune and inflammatory diseases: Restoring immune balance
Presentation: The Importance of taking a patient centric approach when conducting rare disease clinical trials
Sponsored by Caidya.
Presentation: Facilitating a sponsor’s engagement with a rare disease patient advocacy organization: A case study
Sponsored by Ergomed
Presentation: Barriers in site identification: Navigating challenges in advanced therapy trials
Sponsored by Premier Research.
Fireside Chat: Hot topics in EAP
Company presentation: Developing a cell therapy for spinocerebellar ataxias (SCAs): PII lessons learned and moving forward
Presentation: Ultra-Rare: Overcoming challenges in clinical development
Fireside chat: Challenges and approaches for patient identification in Rare Diseases
Patient identification in rare diseases is critical to drug development, commercialization and optimizing patient care and outcomes. Patient identification often hits roadblocks after exhausting the initial wave of diagnosed and engaged individuals, leaving many potential patients underserved. To truly maximize the impact of innovative treatments and the power of integrated care, it’s critical to understand how patients navigate the complexities of the healthcare system and identify gaps in care. In this session, we’ll explore the unique challenges of patient identification and management in rare diseases, while sharing practical, actionable strategies to drive better outcomes. Join us for an engaging and interactive discussion!
Fireside Chat: Understanding and evaluating PAG capabilities
Presentation: Forging a new path for Ultra-Rare Disease Treatments; re-envisioning the ultra-orphan drug development and commercialization model
There is no shortage of promising science with potential to treat rare diseases. Advanced genetic medicine approaches have in fact often been proven first in rare. In recent years, however, shifts in market priorities and policy have led to a pullback in investment in rare and, in particular, ultra-rare disease drugs. Dozens of clinical stage programs that have shown clinical benefit in trials have since been shelved. New models are needed to offer a different way forward to get these transformative treatments to patients while still returning value to innovators. We’ll explore the investment thesis and pragmatic rationale for an Accelerator model specifically designed for ultra-orphan drugs.
Fireside chat: Beyond the buzz: Practical applications of AI to maximize real-world data
Presentation: Challenges health care professionals face when applying to early access programs from a project manager’s perspective
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.
Company presentation: Building granular datasets of patient biology to bring precision to neurodevelopmental and neuropsychiatric disorders
Company presentation: Upregulating gene expression by targeting regulatory RNAs: a new approach for urea cycle disorders and other genetic diseases
Presentation: Unique execution strategies for complex trials in rare diseases
Sponsored by Ergomed
Presentation: AI innovation needs the patient’s voice
Sponsored by Parexel.
Presentation: AI-driven indication expansion: Transforming rare disease treatment
Sponsored by Onocross.
Presentation: Navigating the clinical-to-commercial journey for small and mid-size biotech in Rare Diseases
Sponsored by WEP Clinical.
Company presentation: Nicotinamide Riboside for the treatment of Ataxia Telangiectasia
Short break before lunch keynote
Please re-join us as the keynote stage for our lunch keynote panel.
Keynote: Navigating the intersection of technology and personalized care for Rare Disease patients
While AI and machine learning are revolutionizing healthcare, rare disease patients often need more personalized, one-on-one support. This panel brings together industry experts to delve into the nuanced balance between cutting-edge technology and compassionate, individualized care. Join us to explore how patient support programs can determine the right moments to employ advanced technological solutions and when to prioritize human interaction, ensuring the best outcomes for rare disease patients.
Sponsored by Eversana.
Speed networking
Join us in Hall C for speed networking.
Networking, Poster, & Expo Break
Networking, Poster, & Expo Break in Hall C
Roundtable 1: From discovery to access: Harnessing patient engagement and patient experience data throughout the Rare Disease drug development journey & beyond
Every stakeholder in the rare disease ecosystem – from researchers, developers, regulators, and policymakers to healthcare professionals and patient organisations – aims to improve the health outcomes for patients. Yet, the voices, lived experiences and priorities ofthe rare disease patient community (including families, caregivers and loved ones) often go unheard.
At the same time, patient engagement (PE) and patient experience data (PED) are emerging as key enablers in research and healthcare to deliver evidence-based patient unmet needs, health outcomes and impact.Optimizing patient health outcomes through the integration of PE & PED across research and healthcare systems should now be a priority for all the stakeholders in the healthcare ecosystem.
How can we bridge this gap and ensure PED, integrated with PE, becomes a driving force in clinical development andhealthcare decision-making in the rare disease space - addressingevidence-basedpatients’ unmet needs and priorities?
Join us for an engaging and open conversation on the role of PE and PED in rare diseases and share your insights and experiences on the value patient-driven data can bring patients, society and businesses.
Sponsored by Alfasigma.
Roundtable 10: Finding the common in rare: Unlocking the power of the parent voice
Roundtable 11: Being in-the-know: What VCs are looking for in 2025
Roundtable 12:The mental health burden of the diagnostic odyssey
Roundtable 13: Accelerating access: Full trial enrollment of rare kidney disease patients in under 6 months
Sponsored by Natera.
Roundtable 2: The truths and myths of building a patient-first exclusive distribution program
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.
Roundtable 3: Gene therapy for rare diseases: Clinical trial experiences and lessons learned
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.
Roundtable 4: Holistic product planning: Due diligence and early considerations for prioritizing assets and indications
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.
Roundtable 5: Co Creating a patient advocacy engagement plan for early access programs (EAPs)
- 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.
Roundtable 6: Insights from the HTAi RD interest group
Rare Diseases – HTAi
Sponsored by Sanofi.
Roundtable 7: Rare access to patient therapies
Roundtable 8: EAP Documents needing patient input: Discussion and list creation
Roundtable 9: Building and advancing research capabilities for ultra-rare disease foundations and parents
Roundtables end. Short break before track sessions resume.
Roundtables end. Short break before track sessions resume.
Chairperson's opening remarks
Chairperson's opening remarks
Chairperson's opening remarks
Chairperson's opening remarks
Chairperson's opening remarks
Chairperson's opening remarks
Chairperson's opening remarks
Presentation: Development landscape of therapeutics for rare seizure disorders
This session will explore:
- Rare seizure disorders: unmet needs and therapeutic potential
- Developing novel therapeutics such as cannabinoids
- Regulatory challenges when developing products for this rare patient population
- Leveraging natural history studies to accelerate clinical development
Sponsored by Allucent.
Presentation: Using the power of sport to build authentic community relationships
Presentation: Maximizing impact of patient voice: Practical partnering advice from biopharma & patient advocacy leaders
Panel: Overcoming the challenge of quantifying the population-level impact of accelerated approval in Orphan/Rare Disease
Sponsored by Johnson & Johnson.
Panel: Unlocking the future: The convergence of AI, personalized Medicine, and genomics
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!
Fireside chat: Driving reimbursement success in Europe with real-world evidence - A case study
Sponsored by Sciensus.
Panel: Discovery 1-2-3. Three biotech companies share how they are using genomic insights to accelerate drug development
Sponsored by GeneDx.
Presentation: Navigating launch challenges: Best practices for Orphan Drug market entry
Presentation: Beyond advocacy: The power of patient-supporting organizations
Presentation: Setting up an EAP without a CRO
Presentation: Safety & compliance without borders: The Orphan Drug safety regulatory checklisT
This presentation explores how orphan and ultra-orphan drug developers can transform global safety compliance into a strategic advantage.
Who Should Attend:Regulatory affairs professionals, clinical operations teams, pharmacovigilance and safety leads, and rare disease developers looking to expand globally.
What Attendees Will Gain:Actionable strategies to navigate global regulations, reduce delays, improve patient outcomes, and checklist to assess current safety readiness.
Sponsred by Pharsafer.
Presentation: ITF Therapeutics commercial start-up bootcamp: From data to market in six months
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.
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
Fireside chat: Cell and gene therapy long term follow-up: Innovative technology & data to support delivery for rare disease populations
We will discuss unique needs and challenges associated with the design and delivery of LTFU studies in rare disease. We will focus on how we can address these challenges by bringing together digital tools, with behavioral science, with instrument science / Patient Experience Data, and decentralized operations to drive long-term engagement and retention. We will review case studies, which provide lessons learned, and illuminate the possibilities of what can be achieved when you bring together these unique disciplines and deploy them through digital tools
Sposnored by IQVIA.
Presentation: What can companies compliantly do in an EAP?
Presentation: How are we launching innovation in Europe?
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.
Panel: Panels like this aren’t enough: Authentic Advocacy is good for business: How to create effective community engagement to power biotech programs for success
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.
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: Access to rare disease therapies in Medicaid - Barriers and policy solutions
Medicaid covers nearly 80 million Americans, making it the largest health care program in the United States. It is therefore a critical source of coverage and access to transformational therapies for people with rare diseases. Unfortunately, people living with rare disease in Medicaid often confront significant barriers to treatment. To develop a deeper understanding of these challenges, the Manatt Cell & Gene Therapy Research Collaborative analyzed 50-state data on issues including:
· Access to testing and specialists
· Restrictive coverage policies
· Delays in care
· Support for long-distance travel
In addition to discussing key findings from the research, Manatt and the Leukemia & Lymphoma Society (LLS) will discuss potential policy solutions and implications for advocacy to reduce these obstacles to patient access.
Sponsored by Johnson & Johnson.
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: 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: The Rare Disease Playbook: Winning with Mindset, Strategy & Collaboration
Somebody To Talk To is a not-for-profit providing FREE weekly patient education and support sessions for rare disease patients. Sessions focus on patient best practices, disease fluency, and coping skills, while offering vital social connection for patients and families. Dan Lier shares his journey from top sales trainer to rare disease advocate, showing how mindset, strategy, and teamwork help the rare disease community thrive.
Sponsored by Somebody to Talk To.
Happy hour!
Join us in Hall C for happy hour!
Create your personal agenda –check the favourite icon
Expo hall & registration opens
Expo hall & registration opens
Chair person opening remarks: Transforming the development and regulatory landscape to meet the needs of untreated rare diseases in the 21st century
Keynote: Priorities, policies and impact on patients living with Rare Disease
Sponsored by Johnson & Johnson.
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 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
Chair's opening remarks
Chair's opening remarks
Chair's opening remarks
Chair's opening remarks
Chair's opening remarks
Chair's opening remarks
Panel: Optimizing Strategies for Orphan Drug Access and Reimbursement: Considerations for Raising Venture Capital through Commercialization
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.
Presentation: Bridging the gap: Accelerating rare disease clinical trial recruitment through telegenetics
Sponsored by Genome Medical.
Presentation: How the legislative branch can assist in accessing treatment for Rare Diseases
Presentation: Starting with the end in mind: Regulatory and clinical development of gene therapies
Fireside chat: Rare Find: Patient identification in Ultra-Rare Disease
Presentation: Rare disease drug access- Qalsody: A Case Study
Company presentation: Efficacy and Safety of CBL-514, a Novel Lipolytic Injectable, in the Treatment of Dercum’s Disease: Phase 2 Study Results
Company presentation: Unlocking hope for patients- Innovative Plasmalogen Derivatives for Rare Pediatric Diseases
Panel: Validation of a machine learning predictive model for the identification of APDS patients
This presentation showcases innovative methods validated against the newly assigned ICD-10 code for Activated PI3K Delta Syndrome.
Sponsored by EVERSANA.
Panel: The future of drug development in Rare and Orphan Diseases: Navigating regulatory Challenges and clinical innovation
Sponsored by Lumanity.
Presentation: Patient centric approach for successful recruitment of Orphan Disease patients in Japan
Sponsored by 3H Medi Solution Inc.
Presentation: Socialization and its impact on rare disease patient's quality of life and health outcomes
Company presentation: How can AI accelerate the diagnostic journey for rare disease patients?
Presentation: Where technology meets Human: Healthcare. Numbers. Money. People
Sponsored by Volv.
Company presentation: Turning off-label usages into approved treatments
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.
Panel: Innovative approaches to provide access to rare disease medicines in LMICs
Presentation: “Copays Kill”: How benefit design and “Fraud” Enforcement hurt rare disease and other patients
Presentation: From idea to action : Accelerating Rare Disease diagnosis - A global commission resource compendium
Sponsored by Sanofi.
Fireside Chat: Identification of patient selection genomic biomarkers of liver safety from the UK Biobank database
Panel: Fast track to uptake: Building treatment and trial readiness
Sponsored by 3H Medi Solution Inc.
Fireside chat: Patient perspective of Ehlers-Danlos Syndrome: From diagnosis to daily life: The long road to recognition and support
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.
Panel: Finding the optimal pathway to market and moving the bar for regulatory approval
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.
Fireside chat:The opportunities and challenges around newborn screening policies for rare diseases
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: Burn to beauty- The lessons learned from the burn unit
Networking, poster, & expo hall break
Networking, poster, & expo hall break
Keynote panel & screening: The Next Frontier: The art of impactful storytelling in Rare Disease
For centuries, humans have used stories to inform, educate and entertain. Those values have shaped over 100 years of BBC storytelling: we know that when we get those three things right, we’re able to create content that lives on in audiences’ hearts, minds and memories.
This panel, featuring leaders with diverse expertise across biotechnology and rare disease, will delve into our findings and discuss how to tell stories about innovation that matters.
Short break before track sessions resume
Short break before track sessions resume
Chair's opening remarks
Chair's opening remarks
Chair's opening remarks
Chair's opening remarks
Chair's opening remarks
Chair's opening remarks
Chair's opening remarks
Presentation: Breaking barriers- Innovations in pediatric genetic disease
Presentation: Framework for characterizing impact of patient involvement in health technology assessment
Presentation:Towards a World Health Assembly Resolution & Global Action Plan on Rare Diseases
Fireside chat: Addressing unexpected discontinuation of long-term follow-up in a gene therapy study
Presentation: At the crossroads of innovation: Gene therapies and market access for lifesaving solutions
Presentation: Life on a waterbed; the ripple effects of trauma
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.
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.
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.
Presentation: EU JCA - implications for orphan medicines
Sponsored by RTI Health Solutions.
Presentation: Scaling global impact: Empowering Rare Disease communities through the Matrix Rare Disease Platform
Presentation: Applying Principles of FDA’s Project Optimus to Oncology and Non-Oncology Rare Diseases
Fireside chat: Building patient access services
Panel: Mental health and rare disease: How to incorporate mental health in your organization and clinical trial programs?
Panel: Giving voice to rare diseases during joint clinical assessment
Starting January 13, 2028, orphan medicines will be required to undergo Joint Clinical Assessments (JCAs) as part of the EU Health Technology Assessment Regulation (HTAR). Manufacturers must prepare and submit JCA dossiers documenting the comparative efficacy and safety of their products against relevant comparators across EU member states. However, applying the same rigorous standards to orphan medicines as to other drugs presents unique challenges, including small patient populations, limited evidence, treatment variability, and high levels of uncertainty.
This panel will feature Victor Maertens, Government Affairs Director at EUCOPE and a leading expert in European policy and government affairs, Patrick Hopkinson an experienced representative from the pharmaceutical industry, and Sorrel Wolowacz, Vice President at RTI Health Solutions, who is an expert in innovative methods for demonstrating value in orphan medicines. The session will be moderated by Anne Heyes, Vice President at RTI Health Solutions.
The panelists will share insights from policy, patient advocacy, and industry perspectives on how they are preparing for these upcoming changes. They will discuss strategies for overcoming challenges associated with JCAs and highlight key advocacy efforts aimed at ensuring that the unique needs of orphan medicines are addressed under the new framework.
This session is essential for stakeholders seeking to navigate the evolving regulatory landscape while maintaining access to life-saving therapies for rare disease patients.
Sponsored by RTI Health Solutions.
Panel: Navigating change: Evolving policy landscapes for rare disease access
Fireside chat: Engaging emerging markets in orphan drug clinical trials is critical for rare diseases
Panel: Inclusivity in clinical trials and product planning to support access and commercialization
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: Next-generation of biopreneurs: The future of rare disease & innovation
Presentation: Integrating patient-reported outcomes into clinical and regulatory pathways for rare diseases: Challenges and solutions
Panel: Rare Leadership: Women redefining healthcare
"Rare Leadership: Women Redefining Healthcare," assembles five distinguished leaders, four of which were featured on the Healthcare Marketing Sherpas Podcast: Rare Women Series, with host Janet Carlson, launched in April, 2025. Each of these women has and continues to pioneer 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 disease
- AI’s usefulness in healthcare innovation
- Strategies to drive meaningful change in traditionally male-dominated fields
- The power of collaboration in healthcare innovation
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.
Presentation: Navigating the unknown: Strategies for investigating variants of uncertain significance in rare disease
Presentation: The power of partnership: Co-designing meaningful measures of patient outcomes in ATTR Amyloidosis
Sponsored by IQVIA.
Panel: Patient Access: Exploring issues creating barriers for patients in health care coverage, and potential solutions
Panel: Unveiling promising strategies: Drug discovery for rare disease treatment
Panel: Media as a lifeline: Amplifying voices in the rare disease community
Presentation: Novel gene editors to target orphan diseases
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