Agenda
27-29 October 2025
RAI Congress Center, Amsterdam
Amsterdam, 27 - 29 October 2025
Schedule
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Early Access & Patient Advocacy
Hollistic Approaches to Rare Disease Drug Development: Integrating ESG, Patient Engagement, and Commercial Strategy for Improved EU Access
Working Group 8: Involving Rare Diseases Patients in Clinical Guidelines’ Development
Innovation in LMICs: Overcoming Barries to Access and Advancing Global Rare Disease Solutions
Enabling Digitally-Enhanced Care for Rare Diseases in Europe
Lysosomal Storage Disorders (LSDs) present significant challenges, including delayed diagnoses, fragmented care pathways, and limited access to specialist care. Digital health technologies offer a transformative opportunity to address unmet needs by enabling earlier intervention, enhancing care coordination, and empowering patients and healthcare providers with innovative tools.
Utilizing interactive tools and featuring multi-stakeholder perspectives from patients to industry and policymakers, this discussion will explore the integration of digital health innovations ranging from AI to telemedicine, digital medical devices, and other connected care technologies into care pathways for rare diseases across Europe
The Rare Disease Action Plan – Where are we now?
Rare diseases pose unique challenges to healthcare systems worldwide due to their low prevalence and complex treatment requirements. Traditional financing mechanisms often fail to adequately address the needs of patients with rare diseases, leading to disparities in access to treatment and care. Last June, RDI (Rare Diseases International) launched a campaign for a World Health Assembly (WHA) Resolution on Rare Diseases in 2025. RDI is launching a campaign for a World Health Assembly (WHA) Resolution on Rare Diseases in 2025.
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Keynote panel: Looking ahead, what does the future hold for Europe’s Life Science Strategy and what does it mean for rare diseases?
Keynote panel: How well has your EUHTA implementation gone?
Working Group 1: How can we manage the tension between immediate access to innovation and affordability?
Working Group 2: From Insight to Action: Leveraging Patient Experience Data Across the Rare Disease Lifecycle
Understanding patient experiences, preferences, and behaviours is critical to developing treatments that truly meet patient needs. Yet in rare diseases, capturing and applying these insights remains difficult due to small, diverse populations, delayed diagnoses, a lack of standardized methods, and limited regulatory guidance.
This panel will explore how both qualitative, and semi-quantitative patient data can inform more effective, patient-centred decisions across the product lifecycle in the rare disease space. Experts will address key barriers, such as data integration, resource constraints, and methodological gaps, and share practical strategies and real-world examples to overcome them.
Join the panel and gain a clear view of what meaningful patient experience data look like and how they can drive clinical development strategies, as well as pre-launch and market success
Working Group 3: Shifting Strands: Operational Challenges and Ethical Dilemmas of Genetic Testing
Working Group 5: Changes in orphan drug legislation and patient access
Reserved for Clinigen
Working Group 6: Challenge of Demonstrating Clinical Meaningfulness in the Context of Rare Disease
Reserved for Decisive Consulting
Strategies for securing early stage funding and maximising fundraising opportunities
Horizon scanning towards better payer decision making
Innovation in LMICs: Overcoming Barries to Access and Advancing Global Rare Disease Solutions
Landscape Analysis from the Bottom Up: Letting the Patients Tell You Which Sites to Use in Your Rare Disease Trial
Panel: Platform approach to GLP – moving away from product authorization
To invite:
Constanz Blume, Global Regulatory Affairs, BionTech
Kent Rogers, CEO, Everyone Medicines
Senior EMA Representative
The growing influence of patient voices in Rare
Senior Representative, UCB
The need for better diagnosis in rare primary immunodeficiencies
Senior Representative, EUCOPE
The utilisation of healthcare resource and economic burden on patients living with rare diseases – Title TBC
Reserved for EVERSANA
Uncovering genetically defined patients for improved diagnosis, drug development and commercial strategy
Natural history studies of how to understand a rare disease
Connecting Expertise: Advancing International Collaboration through Rare Disease Centers
How to scale individualized therapies – perspectives from the front lines
A new definition of Unmet Medical Need in EU pharma legislation; impact on innovation and access for patients
AI & the use of DHT Technologies
Challenges of Late onset Rare diseases – recommendations from the COLLABORATE Consensus Paper From Complexity to Clarity: Overcoming Reimbursement Challenges for Orphan Drugs
Establishing a R&D Union in Europe
The use of Delphi Panels in RWE
Senior Representative, Costello
What funding opportunities can patient groups maximise to advocate for new treatments?
ALEETO™️, protein complex derived from stimulated stem cells, a novel neural repair reagent from bench to clinic
IRDiRC Taskforce on prevention: Opportunities and Challenges in the shift from treatment to prevention
More speakers to be confirmed..
Panel: How will be the JCA for ATMPs? Questions and answers from the ATMP ecosystem
More speakers to be confirmed..
Aspire4Rare: Acting Now for People Living with Rare Diseases
Senior Representative, UCB
Beyond Recruitment: The Value of Patient and Care Network Education in Rare Disease Clinical Research
Bridging the Gap: Clinical Trials as a Standard of Care in Rare Diseases
Leveraging Compassionate Use Programs to Accelerate Investigational Drug Development in the United States
The Role of Foundations in Advancing Rare Disease Research: Funding Models and Success Stories
The role of patient advocacy in access to whole genome sequencing for cancer of unknown primary
Clinical stage program on rare genetic disease Hypophosphatasia
Conceptualising economic models in rare disease and ultra-rare conditions
The bumpy and uncertain road to access in the NLs
-Hepcludex reimbursement hurdles (a.o.sudden recall FE exemption, conditional approval; European guideline vs NL HCP position statement)
-Yescarta in 2L DLBCL (a.o. DRG estimated costs vs RW-costs; long waiting time input profession)
What kind of data/assets can patient groups bring into pre-clinical or clinical development?
Metabolic plasmalogen replacement therapy for a rare peroxisomal disorder – Title tbc
AI and it’s use in access and pricing
An integrated approach to gathering the voice of the patient in an ultra-rare pediatric disease
Panel: Innovative funding mechanisms and business models to de-risk Orphan Drug investment
Invited:
Francis Pang, SVP, Global Market Access & International Geographic Expansion, Orchard Therapeutics
Liz Fowler, Former Director, CMS Innovation Center; Former VP, Global Health Policy, J&J
Rosana Sovani, Partner, Head of Legal Public Affairs, LS CUBE Studio Legale
Panel: Issues on how to characterise rare diseases
Invited:
Senior HTA Representative
Senior Clinician
Senior Geneticist
Panel: The use of rare disease registries – bridging the gap between regulatory and patients
Invited speakers:
Prof. Peter Mol, Professor, Drug Regulatory Science, University Medical Center Groningen, CHMP Member, CBG-MEB
Senior ERN Representative
Senior Patient Representative
Reimbursement timelines and key access challenges for Cell & Gene therapies in the Netherlands vs other EU countries
Sustainability of lifetime dosing for antisense oligonucleotides in rare diseases: The need for scalable national models
The First Closed-Loop Breathing Pacemaker: Toward an Artificial Pancreas Respiratory Drive
Patient centricity – from ambition to implementation
Integrating market access into regulatory strategies
Optimizing Clinical Trial Design for Orphan Drugs: Addressing Recruitment, Efficacy, and Safety in Rare Diseases
A gene therapy approach for ARSACS: insights from preclinical models
Panel: Driving Patient-Centric Innovation: Pharma’s Involvement and Stakeholder Collaboration
Considerations when conducting your rare pediatric programmes
Out of the box toolkit – Legal tools for patient advocacy
Panel: EU’s Rare Opportunity: Navigating the new Joint Clinical Assessment route in Europe
Senior Representative, EVIDERA
Invited:
GBA, H-AS, NICE
Jakub Dvořáček,Deputy Minister,Ministry of Health of Czech Republic – tbc
Adrian Goretzki, President, Healthcare Education Institute – tbc
Characterizing Impact of Patient Involvement in HTA
Diversity and Equity in Clinical Studies: Impact on Rare Disease Studies
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Keynote Panel: Leveraging new technology for smarter decision-making in Rare Disease drug development and access
Keynote panel: New treatments on the block – 2025’s rare disease pipeline
Accelerating rare disease diagnosis beyond birth
Access and HTA pathways for OMPs – do they improve access and drive incentive for innovation?
Senior Representative, Ipsen
Advancement of analytical tools for testing and characterization of AAV gene therapy products
DMAb Technology: The Transformational Potential of Next Gen DNA Medicine in Rare Disease
Endpoint Adjudication in Rare Disease Trials: Navigating Uncertainty and Advancing Objectivity in Outcome Assessment
Sources of uncertainty in rare disease endpoints and strategies to address them.
Standardizing endpoint definitions and assessment criteria.
Use of blinded independent adjudication committees.
Practical steps for implementing effective adjudication processes.
EURORDIS Rare Barometer, an initiative supporting evidence-based patient advocacy
Panel: Defining the building blocks to enhance the research and therapeutic development pathway to be more psychologically informed
Strategic use of RWD for the use towards HTA submissions
Invited:
Frauke Naumann-Winter, Committee for Orphan Medicinal Products, Institute for Drugs and Medical Devices – TBC
Maximizing Value & Positioning in the Emerging Competitive Rare Disease Arena
Navigating the Uncharted: Patient Experience Mapping in Rare Disease
Senior Representative, Ipsen
Panel: Competition of regulatory ecosystems in approving medicines: policy implications in the case of Europe
Panel: Ensuring ATMP Manufacturing Excellence in EU – the need for a policy framework and opportunities in the Biotech Act
Invited speakers:
Senior Representative, Miltenyi Biotech
Senior Representative, European Commission
More to be confirmed..
Panel: The Impact of Biotechnology: Evolution and Revolution in Rare Diseases
Invited:
Senior Representative, HollandBio
Senior Representative, CSL
Personalised medicine dilemma – how do we generate data?
Senior ERN Representative
Rare Kidney conditions HE Report
Rare Kidney conditions HE Report
Panel: Implications of EU HTA Joint Clinical Assessments to Patient Engagement Practices in Rare Diseases
This panel will explore thepractical implications that industry and patient organizations need to consider when engaging given the evolving landscape of HTA in Europe
Convergence on rare disease and precision medicine – a real drive on drug development and patient advocacy
How do you assess evidence in Rare? The work of HTAi RDIG
Unique Challenges in Recruiting Patients for Rare Indication Paediatric Studies: Overcoming Difficulties through a Site and CRO Perspective
Volume and willingness to pay – strengthening access to medicines for rare diseases to sustainable costs
Invited:
Sofie Alverlind,Coordinator and Project Leader,TLV
MoCA and JSC in practice - a multistakeholder perspective
Navigating FDA Processes, including overcoming a partial clinical hold
New platforms for RNA therapy development and regulatory considerations – ERDERA
Panel: Drug Repositioning – How to get shelved assets that have value for the Orphan drug value chain
We are pleased to confirm the proposed session topics for our Drug Repositioning segment. These include:
Assets (Shelved Assets)– exploring how previously shelved drug candidates can be repurposed for rare diseases.
Success Story (Gomekli)– highlighting the case of Gomekli (mirdametinib) as a successful drug repositioning story.
Accelerator (European Drug Discovery Engine by CTF Europe)– introducing CTF Europe’s new orphan drug discovery engine accelerator initiative.
Investors– discussing how public and private entities can support drug repositioning, and the business rationale behind their involvement.
Panel: Exceptional Use of an Orphan Drug for an Ultra Rare Disease
The EU Biotechnology and Biomanufacturing Initiative Opportunities for Investment into Rare Disease Innovation and delivery
The story of Marco: Ultra rare case study towards the treatment of Menkes Disease
ARSACS (Ataxia Charlevoix-Saguenay): Finding Solutions for Rare Disease Patients – title TBC
Invited speaker:
Dr. Bart Van de Warrenburg, Professor of Neurology & Medical Lead, Center for Rare and Genetic movement disorders, Radboudumc
Transitioning from US coordinated clinical trials to commercialization in Europe
Transitioning from US coordinated clinical trials to commercialization in Europe
Will the bubble burst on rare disease and orphan drugs? Paying for innovation and access.
Strategies for securing early stage funding and maximising fundraising opportunities
Strategic Evidence Generation – Exploring Multiple Stakeholder Needs
The Role of Basket & Umbrella Clinical Trials in Tackling Rare Diseases
Senior Representative, C-Path
ATMPs: Essential Tools or Essential Medicines?
Senior Representative, Miltenyi Biotec
Orphan Drug Access Protocols
Pharmacometrics and manufacturing for exceptional use of an orphan drug
Unmet Medical Need in Haemophilia
Invited:
Senior Representative, Novo Nordisk
European Hemophilia Consortium
ERN Blood
Patients voice in clinical trials design and outcomes
Senior Representative, FH Europe
Panel: Driving Patient-Centric Innovation: Pharma’s Involvement and Stakeholder Collaboration
More speakers to be confirmed..
Keynote Panel: In what way can we mobilise, enable and leverage international policies around the world for PLWRDs?
Invited: Dr Mohamed Hassany, Assistant Minister for Public Health Initiative, Ministry of Health Egypt
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