Agenda
27-29 October 2025
RAI Congress Center, Amsterdam
Amsterdam, 27 - 29 October 2025
Schedule
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Defeating uncertainty: Effectively Manage the Journey from Clinical Trials, OD Designation through to Patient Access
- arn about:-
- Clinical trial planning
- Managed early access
- Regulatory Submissions, OD designation & EU Legislation
- Link to RWE, pricing and reimbursement/commercial planning/team alignment
- Approval & Launch
Innovative Methodological Approaches Accelerating Rare Diseases Drug Development: Bridging Data, Innovative Design, and Decision-Making
Developing effective therapies for rare and ultra-rare diseases (U)RD is hindered by inherent challenges such as limited patient numbers, disease heterogeneity, and complexities in defining clinically meaningful endpoints. Accelerating progress requires novel methodological approaches across the entire R&D spectrum. European initiatives like ERDERA, INVENTS, and RealiseD are tackling these challenges head-on through collaborative, multi-stakeholder efforts. This session will showcase how these projects are developing and implementing cutting-edge methodologies to optimise clinical trial design, leverage diverse data sources including Real World Data (RWD), streamline evidence generation, and ensure alignment with regulatory and HTA requirements, all centered on patient needs.
Working Group 1: Involving Rare Diseases Patients in Clinical Guidelines’ Development
Accelerating a patient powered pathway from development to market in Europe with rare therapies
2-3 PM:- Early/Expanded Access Programs: Explore ways to better execute EAPs in Europe that ensure an optimized experience, from patient discovery to engagement.
Speaker: Andrew Cummins, Vice President, Business Development
3-4 PM:- Regulatory, Pricing, and Market Authorisation: How best to navigate the complex European environment to ensure the best approach and successful execution of these critical components of the development journey.
Speaker: Andrew Cummins, Vice President, Business Development
4-5 PM:-Patient Engagement and In-Market Support: What are best practices for patient-focused support programs, distribution, and digital solutions post-approval and in-market.
Speakers: Mathieu Loiseau, Director of Rare Clinical Services
Sophie Muir, Chair & Founder
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
Public Private Partnerships in Rare Disease: Ideas to action
This workshop will explore innovative approaches to cross-sector partnerships in the EU rare disease landscape. Participants will examine successful case studies that highlight innovative collaborations in rare disease research and diagnostics, showcasing how diverse stakeholders can work together to overcome challenges. The session will highlight partnerships that have demonstrated significant impact across the European rare disease ecosystem. By fostering knowledge exchange and promoting innovative strategies, this workshop aims to inspire and equip attendees with actionable insights to enhance multi-sector collaboration and ultimately improve outcomes for rare disease patients across Europe.
- Interdisciplinary Collaboration: Tools and Insights for Successful Rare Disease Partnerships
- IHI RealiseD - compRehensive mEthodological Approach to cLinical trIalS in (ultra-)rarE Diseases
- Newborn Screening in the EU: Historical Perspectives and Future Horizons
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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?
-The global impact of U.S. changes – what opportunities could this mean for Europe and how can we make this an advantage for Europe?
-How will the pharmaceutical legislation and EU level changes affect rare disease investment, regulation, affordability and accessibility to patients?
-How can we ensure Europe’s R&D remains competitive, well-funded and sustainable?
-How should industry respond in order to keep innovating more therapies for rare diseases?
-How can each multi-stakeholder contribute to a more sustainable ecosystem?
Keynote panel: How well has your EUHTA implementation gone?
-Are we stuck in the past? Perspectives from the HTA coordination group: the historical structure of healthcare systems and how this needs to change going forward
-The role of the EUHTA and the need to consider ability and willingness to pay from individual countries
-How will the parallel joint collaboration work between member states?
-How prepared is industry?
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: How can we manage the tension between immediate access to innovation and affordability?
Working Group 4: How to enable access to orphan drugs with uncertainties for patients
Working Group 5: Designing Inclusive Clinical Trials for Sickle Cell Disease
·Challenges in enrolling underrepresented populations (predominantly of African, Caribbean, Middle Eastern, and Indian descent).
·Operational approaches to build trust with historically underserved communities.
·Lessons learned from ongoing SCD gene therapy trials
Working Group 6: Competition of regulatory ecosystems in approving medicines: policy implications in the case of Europe
Working Group 7: The future of Cell & Gene Therapy for Rare Diseases
Working Group 8: The Orphan Drug Expert Group
Strategies for securing early stage funding and maximising fundraising opportunities
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: How will be the JCA for ATMPs? Questions and answers from the ATMP ecosystem
-Why ATMPs are a unique opportunity to modernize HTA and drive the EUs competitiveness
-How do we get there?
-What are the gaps and how to fill them?
Panel: Platform approach as a new concept – moving away from product authorization?
Invited:
Constanze Blume, Global Regulatory Affairs, BioNTech
Falk Ehmann, Head of Innovation and Development Accelerator, EMA
Patient centricity – from ambition to implementation
Rethinking standards of care: An example of Myasthenia Gravis
The Utilisation of Healthcare Resource and Economic Burden on Patients Living with Rare Diseases
With approximately 300 million people globally affected by rare conditions, this session will share findings from our research that aims to reshape care delivery and inform policy through the development of innovative computational tools and real-world evidence.
In this session will discuss how:
Leverage advanced data analytics to identify undiagnosed patients,
Improve clinical decision-making,
Quantify the economic and medical burden of rare diseases.
Uncovering genetically defined patients for improved diagnosis, drug development and commercial strategy
Fondazione Telethon not-for-profit model: from research to distribution of ATMPs for ultra-rare conditions
Harnessing expert opinions using Delphi Panels to address evidence gaps
Connecting Expertise: Advancing International Collaboration through Rare Disease Centers
Ilofotase alfa as potential ERT for patients with Hypophosphatasia
Beyond Recruitment: The Value of Patient and Care Network Education in Rare Disease Clinical Research
Challenges of Late onset Rare diseases – recommendations from the COLLABORATE Consensus Paper From Complexity to Clarity: Overcoming Reimbursement Challenges for Orphan Drugs
Cross Border Access for Rare Disease Patients
Establishing a R&D Union in Europe
The Role of Foundations in Advancing Rare Disease Research: Funding Models and Success Stories
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
Panel: Challenge of Demonstrating Clinical Meaningfulness in the Context of Rare Disease
Reimbursement timelines and key access challenges for Cell & Gene therapies in the Netherlands vs other EU countries
Panel: Expanding patient access to multi-indication medicines in Europe through innovative agreements
-Case study example of multi-year, multi-indication (MYMI) agreements in Belgium, Italy, Netherlands and UK
More speakers to be confirmed..
Rare disease registries - Title TBC
Bridging Hope with Every Patient in Mind: Exploring Funded Pathways for Rare Disease Innovation
Creating Opportunity in the Chaos: Refocusing Patient Advocacy Efforts
Integrating market access into regulatory strategies
Reimagining Diagnosis in the Era of Patient-Centered Healthcare
Senior Representative, UCB
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)
Conceptualising economic models in rare disease and ultra-rare conditions
Metabolic plasmalogen replacement therapy for a rare peroxisomal disorder – Title tbc
A gene therapy approach for ARSACS: insights from preclinical models
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
Bridging Innovation and Equity: New Models for Orphan Drug Assessment in Europe and Beyond
Giving back what's theirs: empowering patients through individual data return
How to scale individualized therapies – perspectives from the front lines
Panel: Innovative funding mechanisms and business models to de-risk Orphan Drug investment
Invited:
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: The use of rare disease registries – bridging the gap between regulatory and patients
The First Closed-Loop Breathing Pacemaker: Toward an Artificial Pancreas Respiratory Drive
Modeling Rare Mitochondrial Diseases Caused by POLG Mutations for Drug Discovery in Children: Opportunities and Challenges
From Barriers to Bridges: Transforming Regulatory Relationships to Improve Rare Disease Access
Senior Representative, Norgine
What kind of data/assets can patient groups bring into pre-clinical or clinical development?
A new definition of Unmet Medical Need in EU pharma legislation; impact on innovation and access for patients
Orphan Drugs Development: Productivity and Probability of Success
Project Mercury: A Philanthropic Blueprint for Global Rare Disease Collaboration
Raya is a mission driven company that is developing 5 different clinical stage NCEs for ALS and other neurodegenerative diseases
The critical need for new roles in research at site level for Oncology and Rare diseases
The role of patient advocacy in access to whole genome sequencing for cancer of unknown primary
Panel: Driving Patient-Centric Innovation: Pharma’s Involvement and Stakeholder Collaboration
Unique challenges and unmet need for the treatment of Cushing Syndrome; Phase 2 clinical trial in Europe
Ask the investors: How to attract interest and investment to your start-up
Why the focus on rare disease studies? Efficencies around clinical development offer commercial success
Panel: EU’s Rare Opportunity: Navigating the new Joint Clinical Assessment route in Europe
Invited:
GBA, H-AS, NICE
Jakub Dvořáček,Deputy Minister,Ministry of Health of Czech Republic – tbc
Adrian Goretzki, President, Healthcare Education Institute – tbc
Embracing the Future of Clinical Trials to Transform Rare Disease Clinical Trials
Navigating EU Joint Clinical Assessment for Rare Diseases: Strategies for Success
Out of the box toolkit – Legal tools for patient advocacy
Reserved for HEOR
Senior Representative, HEOR
Building on Successes, Shaping the Future: Servier in Rare Neurological Diseases
EURORDIS Rare Barometer, an initiative supporting evidence-based patient advocacy
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Keynote Panel: Leveraging new technology for smarter decision-making in Rare Disease drug development and access
-What advancements have been made towards AI, RWE and scientific breakthroughs in rare diseases? e.g. Patient behaviour and trial recruitment, data collection, digital health, mRNA & other platforms, wearables devices etc.
-Are these technologies being used and do they add significant value to the healthcare ecosystem. E.g., to improve the diagnosis pathway, access to care, clinician workload and impact on healthcare system for rare diseases
-Are regulators, HTAs and payers supportive of these advancements, does it help with their decision-making process?
Keynote panel: New treatments on the block – 2025’s rare disease pipeline
-What are the most exciting new drugs on RDs therapies and gene therapies on the horizon?
-How are policies adapting to meet the increase of new approvals?
-How do we keep rare disease drug development sustainable? Supporting a better economic, policy and regulatory framework to incentivise companies
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
Characterizing Impact of Patient Involvement in HTA
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.
Horizon scanning towards better payer decision making
Panel: Defining the building blocks to enhance the research and therapeutic development pathway to be more psychologically informed
Patient Voice Spotlight: Tour de MMN and the Power of Now
How Every Cure leverages AI and human experts to systematically search through all 60M possible repurposing opportunities
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
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
Diagnostic Odyssey of Patients with Rare Diseases
Exceptional Use of an Orphan Drug for an Ultra Rare Disease
How do you assess evidence in Rare? The work of HTAi RDIG
Panel: Bridging the unbridgeable: clinical expertise vs. real-world data
From Malignancy to Malformation: Navigating the Hurdles of Cancer Drug Repositioning for Vascular Anomalies
Manufacturing of LNPs with multiple nucleic acids payloads and surface “decoration” – TBC
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: What is the Role of Real-World Evidence for Orphan Products with Single-Arm Trials under the European Joint Clinical Assessment Framework?
The story of Marco: Ultra rare case study towards the treatment of Menkes Disease
Patient-Centered Development: Aligning Advocacy, Engagement, and Regulations in Rare Diseases
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.
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: Strategic Evidence Generation – Exploring Multiple Stakeholder Needs
The Role of Basket & Umbrella Clinical Trials in Tackling Rare Diseases
Senior Representative, C-Path
ARSACS (Ataxia Charlevoix-Saguenay): Finding Solutions for Rare Disease Patients
Orphan Drug Access Protocol
Pharmacometrics for exceptional use of an orphan drug
Patients voice in clinical trials design and outcomes
Senior Representative, FH Europe
Keynote Panel: In what way can we mobilise, enable and leverage international policies around the world for PLWRDs?
-What progress has been made from WHO Resolution on Rare Diseases?
-How far are we from a Global Action Plan on Rare Diseases?
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