Agenda
26-28 October 2026
RAI Convention Center, Amsterdam
Amsterdam, 26 - 28 October 2026
Schedule
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Building a unified voice in Rare Diseases: Lessons from the Rare Liver Community
People affected by rare liver diseases face recurring challenges across diagnosis, specialist care, evidence generation and access. Yet action is often organised disease by disease. This workshop would convene patient organisations and policy groups to identify shared priorities and explore a stronger collective agenda.
Key focus:Areas where rare liver disease stakeholders can collaborate while preserving disease-specific priorities and organisational independence.
Discussion themes
Supporting equitable access to rare disease innovation through robust and fair assessment frameworks
Generating evidence and policy solutions through co-creation and cross-sector collaboration
Strengthening the rare disease ecosystem through sustainable stakeholder alliances
Building a shared agenda for rare liver diseases through multi-stakeholder collaboration
ERDERA: AI for Rare Diseases: From Promise to Practice
Artificial intelligence is rapidly becoming an integral part of the rare disease ecosystem, supporting scientific discovery, therapeutic development and strategic decision-making. Yet, beyond the headlines, important questions remain: where does AI genuinely create value, where does it still fall short, and how can it best complement, not replace, human expertise?
This interactive workshop will bring together leaders from research, biotech, pharmaceutical industry, investment and the patient community to explore how AI is already transforming rare disease innovation. Through real-world examples and multidisciplinary discussions, participants will examine both the opportunities and the practical limitations of AI, and discuss how human intelligence and artificial intelligence can work together to accelerate the development of therapies for rare diseases.
Early Diagnosis – What’s Needed to Make Change Happen?
Moving beyond isolated advocacy to accelerate diagnosis, this workshop will holistically explore how early diagnosis fits within the rare disease ecosystem from development of diagnostic technologies, to care pathways and policy frameworks. It will be based on a three-part discussion to:
- Move beyond purely technical debates
- Elicit a range of opinions and different practices
- Align with European policy developments in rare diseases.
HTAi: Implementing HTA recommendations, Evidence assessment, economic modelling, and how legislation drives HTA change
From EU Approval to Patient Availability: Rethinking the Path for Orphan Drugs in The Netherlands
A medicine may be approved in Europe and still remain out of reach for patients in the Netherlands. Why?
Three patient organisations will bring the access challenge to life through real-world cases before a multi-stakeholder panel addresses the questions that matter: Where does the system fail people living with rare diseases? Which barriers can we tackle together? And what must change now to secure treatment for today’s patients and those still waiting for a diagnosis?
This is an interactive session. Through Mentimeter and an open microphone, participants will challenge the panel, test practical solutions and help identify next steps towards faster, fairer and more sustainable access to orphan medicines for people living with rare diseases in the Netherlands.
A Rare Networking Opportunity - Offsite Networking Drinks
A Rare Networking Oppurtinty: Where Rare Meets Real
A Rare Networking Opportunity brings together rare disease patient advocates and professionals working towards rare disease therapies — not to pitch or present, but to genuinely connect. It's easy to reduce people to statistics. To translate lives into numbers. To lose sight of the humans behind the ideas and the data. But those of us living with rare disease know what lies beneath those numbers. And that story matters.
We bring humanity back into the conversation. We know the choices we make and why we make them. We know what we need. And we want to be heard. That's why we're turning the tables and inviting you in — to talk with us, to learn from us, and to reflect on what "rare" really means. Because co-creation achieves so much more than decisions built on assumptions.
The event makes room for the kinds of exchanges that conferences rarely allow. Advocates share what it truly means to live with a rare disease, while researchers, innovators, and policymakers share their goals and challenges in return. We invite you into down-to-earth conversations where new ideas and collaborations can emerge organically, rooted in reality and mutual curiosity.
The atmosphere is intentionally human. A relaxed setting, a carefully considered vibe, and the simple act of lighting up for rare — in green, blue, and purple — signal that this is a different kind of event.
The Rare Networking Opportunity is a showcase of what happens when rare connects. When people who care for rare — whether through lived experience, professional mission, or both — come together, something shifts. Awareness deepens, assumptions are challenged, and the humans behind the rare disease label get the spotlight they deserve.
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Keynote panel: EU Pharmaceutical Legislation Revision – what’s new for 2026?
- How will the revision affect rare diseases?
- Navigating Europe’s regulatory incentives and the future of pharmaceutical R&D innovation
- Who do we ensure that changes can facilitate Europe’s access, innovation and sustainability?
- The European Biotech Act and its impact on rare diseases
Keynote Panel: The next frontier in rare disease, where will the breakthroughs come from?
-What’s in the pipeline and what rare diseases have been targeted?
-How have global launch strategies been impacted by MFN?
-What are the emerging platforms (gene, cell, RNA etc) and novel trial designs for small patient populations?
-How will regulatory pathways accelerate approval, orphan designation and it’s measure overall risk/benefit
-What impacts are new technologies such as AI, Digital Health and medical devices having on the rare disease ecosystem and early diagnosis?
-Have we developed sustainable reimbursement models to fully embrace new these therapies?
Getting comparators right to support access to rare disease medicines: lessons from off-label comparator use in PBC
Patients with rare diseases often have limited licensed treatment options, leading to the use of off-label therapies that may be considered as comparators in value assessment. However, clinical use alone does not necessarily make an off-label treatment an appropriate comparator, and comparator choice can materially influence the assessment of licensed treatments and subsequent patient access. Drawing on expert perspectives and the example of primary biliary cholangitis, this panel will explore the key considerations that should guide comparator selection in rare diseases, including regulatory status, evidence quality, clinical relevance, legal and ethical safeguards, and longer-term access implications. It will also consider potential ways forward to support fair assessment and patient access.
Invisible patients or visible impact? Examining patient involvement and influence in Europe’s Joint Clinical Assessments (JCAs) of new medicines
-Europe’s first JCAs, which examine how well new medicines work and how well they’re tolerated, compared with existing treatment options, have now been published. This provides an initial opportunity to examine how rare disease patient and caregiver perspectives are incorporated into the assessments. However, while patient voices are present in the reports, is there evidence that they influence the assessment itself?
In this working session, participants will:-
-Examine what the published rare disease JCAs reveal about the transparency and impact of patient and caregiver involvement
-Assess what "meaningful impact" looks like for patients involved in JCA decision-making during a roundtable discussion with our expert clinician and patient representative speakers
-Co-create recommendations to support meaningful representation of patient and caregiver perspectives in Europe’s JCA processfor rare diseases and paediatric conditions
Who Makes the cut? Defining a minimum evidence standard for demographic diversity
Evidence generation in rare diseases presents a fundamental challenge for decision-makers. Small and heterogeneous patient populations, limited trial recruitment, fragmented data sources and reliance on registries or natural history studies can make it difficult to determine whether available evidence adequately reflects the population who will ultimately receive an intervention. At the same time, expectations around demographic diversity, equity and patient involvement are increasing across regulatory, HTA and healthcare decision-making.
However, there is currently limited agreement on what information is minimally necessary to judge whether rare-disease evidence is sufficiently representative, transferable and meaningful. Conventional expectations developed for larger populations may not always be appropriate or feasible in rare diseases, where subgroup analyses may be statistically impossible and excessive data requirements may introduce additional privacy, ethical and participation burdens.
Roundtable objective
This exploratory roundtable will bring together patients and patient organisations, clinicians, regulators, HTA and payer representatives, researchers, registries and industry to consider:
·What is the minimum demographic, equity-relevant and patient-experience information required to determine whether evidence from a rare-disease study is applicable to the patients who will receive the intervention?
Rather than treating diversity as an end in itself or defining representativeness solely through demographic percentages, the discussion will focus on whether decision-makers can understand who generated the evidence, who may be missing, which sources of heterogeneity are clinically or socially important, whether outcomes may differ across relevant groups, and how these uncertainties should influence interpretation and decision-making.
Participants will be invited to consider the question from their own perspective: what information does a regulator require to assess benefit-risk, what does an HTA body or payer require to determine value and transferability, what does a clinician require to apply evidence to an individual patient, what information matters to patients and carers; and what can sponsors, registries and researchers realistically collect?
Start-up Pitch 1: Infirmacea Inc.
Start-up Pitch 2: ODDIFACT
Start-up Pitch 3: NEVADA - From Data Scarcity to Insights: Data Science and ML for Clinical Decision-Making
Start-up Pitch 4: Evidax: Comparative Evidence for Multiple Markets, in Weeks, not Months
AI use in policy making – prediction models of reimbursement decisions
Clinical Trials in small populations form the EMA
Considerations for Design of Natural History Studies
- Delineating strategic objectives of NHS
- Patient-centricity in NHS
- NHS as historical control data
From Oncology to Autoimmunity: Translating CAR-T Experience into a New Therapeutic Frontier
Originally developed for cancer treatment, CAR-T therapies are now entering a new frontier in autoimmune and rare autoimmune diseases. This presentation will trace the evolution of CAR-T development, highlight the rapid growth of clinical research beyond oncology, and explore the operational lessons learned from years of oncology experience. Attendees will gain insight into the challenges and opportunities associated with advancing CAR-T therapies in autoimmune indications and discuss the potential impact these innovations could have on patients with rare diseases in the years ahead.
Japan as a Test Case for U.S. MFN: Implications for Orphan Drug Investment, Pricing and Launch Decisions
U.S. Most-Favored-Nation (MFN) drug pricing could change how global pharmaceutical companies evaluate investment, pricing and launch decisions across reference markets. Japan provides a particularly interesting test case: it is a sizeable non-European pharmaceutical market, has traditionally maintained relatively low regulated prices, and is included within the MFN reference framework.
This presentation will share topline findings from Project EQUILIBRIUM, a research study involving Japanese payer and policy experts and pharmaceutical pricing leaders. It explores whether MFN could make delaying or foregoing a Japanese launch a more credible strategic option, how Japanese payers may respond to the resulting risk of drug lag or drug loss, and why orphan and rare-disease products may be particularly exposed.
For European stakeholders, Japan’s response may provide useful early signals as to how other reference markets could adapt when domestic pricing decisions begin to carry greater consequences for global pricing, investment allocation and launch sequencing.
Key Takeaways
MFN could alter the investment logic of individual reference markets.
Launch sequencing may become a more important strategic lever, particularly for orphan and rare-disease products.
Japan may provide useful lessons for European markets facing similar tensions between price control, investment incentives and patient access.
Panel: EU Biotech Act Phase 1
-How will the new biotech act impact Europe?
-What difference will this make in light of the Critical Medicines Act?
Panel: MFN: A regime change for Europe?
Zebra Dx Coalition: How early diagnosis can help with Health Economic outcomes
Using the new FDA/EMA-approved ´Pocock Win Ratio´ to increase success in rare disease external control trials for regulators and HTAs
‘Appropriate Intelligence’: Reimaging rare disease communication with AI
Accelerating the development of safer and more effective genome-editing therapeutics: NCATS somatic cell genome editing program
From Evidence Gaps to Patient Access: Lessions for EU JCA Readiness
Panel: Greater understanding for the patient lived experience
Panel: How to ensure rare disease molecules get to market more efficiently and robustly
Panel: The Economic impact of living with a rare disease in APAC and LATAM – Regional solutions to inform a Global Action Plan
More speakers to be confirmed:
Senior Representative, RDI
Senior Patient Representative
Payer strategy: towards sophisticated budget prioritization
-Outcomes-based vs multi-stakeholder approaches
-Innovative funding/contracting models
Using Law to Improve Access to Rare Disease Care
BRM424, a regenerative peptide to restore corneal homeostasis, achieves complete healing in neurotrophic keratitis patients in 1 month without eye pain
A new definition of Unmet Medical Need in EU pharma legislation; impact on innovation and access for patients
Pioneering Precision: Fast-Tracking Antisense Oligonucleotide Therapy Development for Children with Duchenne Muscular Dystrophy
Driven by Insights: Operationalizing Patient-Centric Design in Rare Disease Programs
In this session, Paula and Jennifer will share how biotech companies and CROs can move patient-centric study design from concept to execution. Drawing on real-world experience in rare disease trials, they will explore practical strategies for keeping patient needs at the core of trial design, thereby improving both the patient experience and overall study outcomes.
Genome Editing: hemoglobinopathies as pioneers in research
It Is What It Is (No, It Isn’t): Raising the Bar Without Raising the Burden
Real-world data (RWD) is often collected under real constraints that may include use of limited resources, legacy systems, and competing priorities. It can make accepting RWD quality as-is the path of least resistance. However, sponsors, sites, and data owners can raise the bar without adding burden to patients or providers. Drawing on good, bad, and ugly case studies, this session explores pragmatic ways to apply principles from recent data quality frameworks, GCP principles, and purpose-built infrastructure to strengthen RWD/RWE quality by design without the extra burden.
Market Access & Pricing for Orphan Drugs
Panel: Orphan drug development in collaboration, how do you include the patient perspective?
To invite:
Senior EMA Representative
The balancing act between Patient Affairs, Patient Advocacy and Patient Engagement
Short abstract:Patient engagement is evolving from consultation towards systematic partnership across the product lifecycle. As organisations strengthen dedicated Patient Affairs and Patient Advocacy capabilities, boundaries can become unclear even though each brings distinct responsibilities, relationships and measures of success. This session would explore productive collaboration while protecting transparency, independence and credibility with patient communities.
Key focus:Practical organisational models for meaningful patient engagement across evidence generation, development, access and policy.
Key discussion points
Evolution from engagement to partnership
WHEN, WHY and HOW of a successful partnership
Distinct and complementary roles
Governance and transparency
Independence and credibility
Measuring impact
Co-created evidence and policy solutions
Future vision for Patient Engagement 2.0
When the market fails, Patients step in: A new blueprint for Rare Disease Drug Development
The Next-Generation Oncology and Neurology Rare Disease Pipeline: InnoMedica’s Talidox and Talineuren
Co-creation with Patients: 2026 classification
Advancing Care Pathways for Rare and Undiagnosed Diseases: From Concept to Implementation
Building Readiness for FDA Accelerated Approval in Rare Disease Drug Development
EU Joint Clinical Assessment for Orphan Medicines: Insights from the First Reports, Methodological Learnings and Implications for evidence generation strategies
Senior Representative, RTI Health Solutions
Is the Dutch innovative healthcare system falling behind vs other EU countries? ATMP Access and HTA Challenges
Panel: Early Detection and Newborn Screening (NBS) in Rare diseases
Senior Representative, Screen4Care
Panel: Investor and Multistakeholder insights: What makes a Rare Trial De-Risked Globally?
Panel: Patient Centred Real-World Evidence for Rare Disease Decision-Making
The Performance of Normality: PH-ILD: the rare disease its patients learned to hide and the 48 hours that revealed it
Unique challenges and unmet need for the treatment of Cushing Syndrome; Phase 2 clinical trial in Europe
Raya Therapeutic: Building the first ever combination-therapy platform in neurodegeneration - powered by multiple clinical-stage assets
Establishing Scalable Financing, Development & Commercial Access Pathways for CGTs for Rare Diseases
Growing Up Rare: The Spectrum of Visibility and Genetic Recognition
Panel: Is the UK Now the Smarter First Launch Market for Rare Disease Therapies?
-Why should companies consider the UK as a launch market before the EU?
-What recent policy, regulatory or access changes have made the UK more flexible and open to rare disease therapies?
Regulatory Challenges in Orphan Drug Development and Approval
Title TBC
Senior Representative MAHTA
Panel: Ask the investors: How to attract interest and investment to your start-up
Panel: Optimizing pricing and access to rare disease drugs – Aligning with payers and health policymakers
Innovative treatments for Endocrine diseases
Evidence Generation for Rare Diseases: Lessons from 25 Years of EU Regulatory Decision-Making
Generating Regulatory-Ready Evidence for Rare Diseases: Insights from the French National Rare Disease Ecosystem
Mapping China’s Rare Disease Patient Ecosystem: What 207 Communities Reveal About Meaningful Patient Partnership
Screen4care EU IHI project and genomic newborn screening: mid-term results and future plans
- Screen4care EU IHI project is a collaborative effort aimed at implementing precision medicine in healthcare.
- Genomic newborn screening is a key component of this project, focusing on early detection and prevention of genetic disorders in infants.
- Mid-term results of the project show promising outcomes in terms of early diagnosis and personalized treatment plans for newborns.
- Future plans include expanding the screening program to reach more newborns and integrating genomic data into routine clinical practice.
Relevance and reality of real-world data generation and utilization in rare diseases
EXPO Networking Drinks
Join us in the Exhibition Hall for Day 1 networking drinks hosted by Alchemist Consulting
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Keynote panel: Redefining clinical value: Navigating the scientific and strategic era of EU Joint Clinical Assessments and Joint Scientific Consultations
- How can joint clinical assessments reshape patient access across Europe?
- How can joint scientific consultations influence global evidence strategies?
- Strategic implications of EUHTA for global clinical development
- Lessons for orphan medical products (OMPs), practical implications and decision-maker learnings
Keynote Panel: How are patients involved in every step of the orphan drug development and global access?
- Patient led solutions to orphan drug development and access bottlenecks
- How to solve the issue of small patient populations through statistical innovation, regulatory flexibility and patient-centricity
- Utilising Real-World Data and natural history studies
- Creating meaningful endpoints that improves patients’ quality of life
Drug Repurposing in Rare Diseases
Fireside Chat: Exon-skipping therapy for the treatment of SMA Type 1
Insilico trials modelling and simulation
Extrapolating data using machine learning/AI to create new learning and data
Panel: From Patient Voice to HTA Evidence: Insights from the EU-Funded PaLaDIn project
Panel: Improving access through innovation of evidence generation and assessment
- The IHI RealiseD project – Improving evidence generation
- The HTAi Rare Disease Interest Group – Improving evidence assessment
Presentation: Hosted by Subrosa
How to overcome lack of data to overcome challenges of lack of uncertainty in Rare Diseases
Investing in Rare – an Epidermolysis Bullosa case study
The era of Antisense Oligonucleotides (ASOs), from personalised treatments to EU-wide authorisation
The Rare Therapies Launch Pad – Driving the switch from research to treatment with iterative learning for individualised therapies
The impact of the upcoming EU Pharmaceutical legislation on orphan and paediatric medicines
What does this mean for R&D of medicines for small populations?
How will the new mechanism of action provisions impact rare tumours and paediatric diseases with unmet needs?
Unlocking the Influence of Lived Experience: From Patient Voice to Shared Value Creation
National Mirror Groups for Rare Diseases
No Rare Child Left Behind: Redesigning Evidence, Policy and Pathways for Paediatric Access
Foster EU leadership in clinical trials for rare diseases through inclusive collaboration between Academy, ERNs, patient groups and industry to accelerate innovation for PLWRD
Panel: Implications of EU HTA Joint Clinical Assessments to Patient Engagement Practices in Rare Disease
Panel: JCA, the first reports: Implications for Patient Access for Orphan’s and ATMPs
-Key learnings and implications for Pharma
-Implications for evidence generation
-Impact on national P&R negotiation’s and patient access
Panel: Two Decisions, One Patient Journey: Aligning Regulators, HTA Bodies and Patients for Timely Access
Rare Diseases, Major Socioeconomic Impact: Understanding the Broader Value of Health Technologies through the SIoH Framework
Building Decision-Ready RWE Around Patient Needs and Access Decisions
Cross Border access in clinical trials
Panel: A global perspective on funding companies developing orphan drugs
-How do investors oversee investment in the rare disease space?
-How does funding in the rare disease space fit into the overall biotech capital investment landscape?
-The types of business models in the orphan and rare disease space attracting funding from corporate investors and private equity firms
Do you need to plan for downstream reimbursement/ market access before investing
From patient input to patient impact: making patient expertise usable in rare disease HTA
When You Hear Hoofbeats: Building Healthcare Systems That Are Designed to Find Zebras
Will the Bubble Burst on Rare Disease? Where JCA Collides with MFN and the Impact on Pricing & Access for Orphan Drugs
Growing emphasis on Ultra-rare conditions: challenge and opportunities and a new research paradigm?
Senior representative, RealiseD
Closing Keynote Panel: Pushing Boundaries for the future – What’s next for Rare?
-Assessing a policy roadmap towards an EU and Global Action Plan for Rare Diseases (GAPRD)
-How will the WHO UN Resolution impact rare diseases in 2026 and what progress has been made?
-How can regions come together to harmonise, collaborate and put patients’ needs at the forefront of decision making?
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