Agenda
27-29 October 2025
RAI Congress Center, Amsterdam
Amsterdam, 27 - 29 October 2025
Schedule
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A Complicated Challenge: What Ehlers Danlos Syndrome Teaches About Trust, Trauma and Trial Design
This interactive session explores how historical clinical challenges, and the Ehlers Danlos patient experience should challenge us to rethink how we define inclusion, eligibility and trustworthiness in clinical research and AI. What authentic steps can industry take to “heal the harm” and promote safer practices in RWE and AI? How can we rebuild trust and design patient informed programs with communities that have been marginalized or misunderstood?
Defeating uncertainty: Effectively Manage the Journey from Clinical Trials, OD Designation through to Patient Access
- is workshop will cover:
- 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.
We will hear about ERDERA's work on innovative data integration, regulatory-grade natural history cohorts, disease progression modelling, and clinical trial simulation. INVENTS will present its generalizable framework for evidence assessment in small populations, including in silico trials and innovative designs. RealiseD will highlight its comprehensive approach to optimising (U)RD clinical trials, focusing on innovative designs, patient-centered outcome measures (PCOMs), regulatory/HTA co-creation, and the development of a practical playbook.
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.
Moderator: Andrew Cummins, Vice President, Business Development, Sciensus
Panel: Jim McGrath, Director of Commercial Policy, Irish Pharmaceutical Healthcare Association
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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.
Moderator: Doug Niven,European Strategic Consultant, Sciensus
Panel: Andrew Cummins, Vice President, Business Development, Sciensus
Ralph Hughes, Chief Business Officer, Faron Pharmaceuticals
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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.
Moderator: Ray Huml, Vice President of Rare Strategy, Sciensus
Panel:Mathieu Loiseau, Director of Rare Clinical Services, Sciensus
Patricia Furlong, Preseident, PPMD
Lara Bloom, CEO, Ehlers-Danlos Society
Sophie Muir, Chair of Trustees, Timothy Syndrome Alliance
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 and to expedite the approval of new medicines?
-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 1: From Insight to Action: Leveraging Patient Experience Data Across the Rare Disease Product Lifecyle
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 2: Every Newborn Counts: The Quest for Equitable Newborn Screening in Europe
Over the past decade, newborn screening programs throughout Europe have seen significant advancements, both in the number of countries adopting them and the variety of disorders they screen for. Despite this progress, considerable disparities remain between countries, with the number of screened conditions varying widely. This session will explore the reasons behind these inequalities and discuss the advantages of achieving more equitable access to newborn screening across Europe for both patients and society.
Working Group 3: How to enable access to orphan drugs with uncertainties for patients
Working Group 4: 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 5: Competition of regulatory ecosystems in approving medicines: policy implications in the case of Europe
Working Group 6: The future of Cell & Gene Therapy for Rare Diseases
Start-ups Pitches
12:55:Yannick Lampo, BDM, Sherwood Pharmaceuticals:First-Ever Treatment for Cri du Chat Patients
13:00: Dr Mona Boyé, CBDO, Ksilink: Automation and high throughput phenotypic screening of patient-based cellular systems for novel treatment options for rare diseases
13:05: Dr Boris Sevarika, Co-Founder & CEO, NanoZymeX: Overcoming Limitations of Current Enzyme Replacement Therapies
13:10: Dr William Jang, Head of Global BD, BioMe:First-in-Class Microbiome Therapeutic for TMAU (Fish Odour Syndrome)
13:15: Dr Sumira Riaz, Founder & Health Psychologist, Unboxed Psychology: Applications of behaviour science: Introducing Unboxed Psychology
13:20: Leonid Stoianov, CEO, Trialize:Redefine Clinical Trials
13:25: Julian Howell, M.D., Founder & CEO, PharmaKrysto:Cystinuria – new approaches to preventing cystine stones – moving to clinical development
13:30: Fabrice Lejeune, CSO, Genvade Therapeutics: Overcoming the Nonsense in Genetic Diseases
13:35: Dr Alistair Irvine, CEO, Scarlet Therapeutics:Application of Red Blood Cell-based Biologics to Rare Metabolic Disease
13:40: Flaminia Macchia, COO, ORPHANET-AISBL:Turning rare disease data into actionable knowledge ready for you
13:45: Vincent Leveque, Co-Founder & CEO, Mirava Bio: Breaking Barriers: Bringing Rare Disease Therapies to Patients in Europe
Fondazione Telethon not-for-profit model: from research to distribution of ATMPs for ultra-rare conditions
Building on Successes, Shaping the Future: Servier in Rare Neurological Diseases
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?
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.
Where next for rare disease national plans – and how can these become key tools to foster research?
Uncovering genetically defined patients for improved diagnosis, drug development and commercial strategy
Strategies for securing early stage funding and maximising fundraising opportunities
Orphan Drugs Development: Productivity and Probability of Success
Turning Expert Opinions Into Evidence: The Power of Delphi Panels for Rare Diseases
Beyond Recruitment: The Value of Patient and Care Network Education in Rare Disease Clinical Research
Connecting Expertise: Advancing International Collaboration through Rare Disease Centers
Ilofotase alfa as potential ERT for patients with Hypophosphatasia
Development of rare patient registries and importance of patient collaboration
Navigating EU Joint Clinical Assessment for Rare Diseases: Strategies for Success
Rare Kidney conditions Report
Reimbursing rare…2028 and beyond
The Role of Foundations in Advancing Rare Disease Research: Funding Models and Success Stories
The Mental Health Burden of Rare Disease: Patient and Caregiver Insights
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
Innovative Features in Registries for Rare Diseases
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
Panel: Reimagining Diagnosis in the Era of Patient-Centered Healthcare
For many patients, the path to an accurate diagnosis is long, complex, and often life-altering. This panel will explore how timely and precise diagnosis can influence patient well-being, access to care, and long-term outcomes. By bringing together perspectives from clinicians, patient advocates, and healthcare experts, we will discuss opportunities to shorten diagnostic journeys, reduce uncertainty, and ensure that the process itself supports true patient centricity.
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
Reimbursement timelines and key access challenges for Cell & Gene therapies in the Netherlands vs other EU countries
The access Gap: Why Dutch patients wait longer for medicines
- Outpatient reimbursement hurdles (a.o. sudden recall FE exemption, conditional approval; European guideline vs NL HCP position statement)
- Inpatient reimbursement hurdles (a.o. DRG estimated costs vs RW-costs; much needed input profession)
Solving the Rare Disease Puzzle Through Thought Partnership
This 15-minute session explores the value of true thought partnership between industry and consultancy in navigating the complex HEOR and market access landscape for rare disease assets. We will define what thought partnership really means, highlight the unique evidence and access challenges in rare diseases, and show how collaborative, strategic engagement can overcome these barriers to deliver meaningful impact for patients and stakeholders.
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
Development of Oral, Small Molecule Treatments for Genetic Diseases
Giving back what's theirs: empowering patients through individual data return
How can AI drive the success of the orphan drug journey from early development through pricing & reimbursement?
How to scale individualized therapies – perspectives from the front lines
Panel: Innovative funding mechanisms and business models to de-risk Orphan Drug investment
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
A gene therapy approach for ARSACS: insights from preclinical models
ALEETO™️, protein complex derived from stimulated stem cells, a novel neural repair reagent from bench to clinic
Panel: Building Stronger Partnerships Across the Rare Disease Ecosystem in Europe
A new definition of Unmet Medical Need in EU pharma legislation; impact on innovation and access for patients
Modeling Rare Mitochondrial Diseases Caused by POLG Mutations for Drug Discovery in Children: Opportunities and Challenges
Engagement of young people in Rare Diseases Research: A roadmap for action
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
Innovative research methodologies qualified by EMA for rare diseases
Raya is a mission driven company that is developing 5 different clinical stage NCEs for ALS and other neurodegenerative diseases
Panel: Driving Patient-Centric Innovation: Pharma’s Involvement and Stakeholder Collaboration
Ask the investors: How to attract interest and investment to your start-up
Unique challenges and unmet need for the treatment of Cushing Syndrome; Phase 2 clinical trial in Europe
Why the focus on rare disease studies? Efficencies around clinical development offer commercial success
Discussion on the OD Expert Group’s Report: An EU Access Toolbox for OMPs that enables early and equitable access
Panel: EU’s Rare Opportunity: Navigating the new Joint Clinical Assessment route in Europe
Panel: Platform approach as a new concept – moving away from product authorization?
Unmet Needs of Individuals with Friedreich Ataxia Cardiomyopathy
Cross Border Access for Rare Disease Patients
Embracing the Future of Clinical Trials to Transform Rare Disease Clinical Trials
Out of the box toolkit – Legal tools for patient advocacy
What kind of data/assets can patient groups bring into pre-clinical or clinical development?
EURORDIS Rare Barometer, an initiative supporting evidence-based patient advocacy
Metabolic plasmalogen replacement therapy for a rare peroxisomal disorder – Title tbc
EXPO Networking Drinks
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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
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.
Global Submission & geographical expansion of new drug for a rare disease: How can we accelerate access for patients worldwide?
This presentation explores the journey of bringing a new drug to market for a rare disease, focusing on the regulatory pathways, challenges, and strategies involved in global submission and geographical expansion. Rare disease development is uniquely complex, requiring early and sustained collaboration across scientific, clinical, and regulatory domains.
We will examine how limited disease knowledge, fragmented diagnostics, and small, dispersed patient populations shape trial design and regulatory planning.
The discussion will highlight how strategic planning and global coordination can help overcome these barriers. A key focus will be the importance of addressing unmet medical needs in rare diseases and the meaningful impact timely access to innovation can have on patients’ lives.
Horizon scanning towards better payer decision making
Panel: Psychologically Informed Research: Embedding Psychological Support in Rare Disease Research & Development
To raise awareness of thepsychological burden of research participationin rare diseases and to highlight how industry can take practical steps to make research and therapeutic development pathways more psychologically safe and supportive.
Objectives
Expose the blind spot: show how research processes can unintentionally increase psychological distress for PLWRD and families.
Connect to industry priorities: demonstrate how embedding psychosocial support improves recruitment, retention, and quality of outcomes.
Highlight practical entry points: identify short-term actions industry can adopt (e.g., psychologically informed consent, peer support access, staff training).
Bridge to ECRD 2026: signal that a deeper co-creation of systemic solutions will follow at ECRD, without pre-empting it.
Patient Voice Spotlight: Tour de MMN and the Power of Now
From Malignancy to Malformation: Navigating the Hurdles of Cancer Drug Repositioning for Vascular Anomalies
How Every Cure leverages AI and human experts to systematically search through all 60M possible repurposing opportunities
Panel: Bridging the unbridgeable: clinical expertise vs. real-world data
Building on Volv Global’s long-running series of workshops talks and panel discussions which move the theme on, year-to-year, this year the focus is on the core value that Every Individual Matters. This panel explores how clinical expertise and real-world data can be united to accelerate rare disease research and care – a real-world exampleof “Where technology meets Human.” Using the Sanofi–Volv Fabry digital natural history project as a case example, experts from industry, patients, regulators and healthcare providers discuss how to turn dialogue into action – advancing earlier diagnosis, better trial design, and improved patient outcomes
Panel: Ensuring ATMP Manufacturing Excellence in EU – the need for a policy framework and opportunities in the Biotech Act
Panel: From Clinical Evidence to Equitable Access: Navigating Joint Clinical Assessment in Rare Diseases
This session will explore the evolving landscape of Joint Clinical Assessments (JCAs) and their potential impact on equitable access to orphan drugs in Europe. Participants will delve into key lessons learned from ongoing JCAs, examining how evidence frameworks, PICO development, and expert involvement could be shaping clinical evaluations in the future. The discussion will highlight both the new opportunities and risks that JCAs present for orphan medicines. Thought a multi-stakeholder discussion,strategies for overcoming potential challenges will be proposed, including the early identification and simulation of PICOs and approaches for aligning evidence generation with JCA and national HTA requirements. Attendees will gain actionable insights into maximizing access and positive outcomes for patients with rare diseases in the context of rapidly evolving clinical assessment landscape
Panel: The Impact of Biotechnology: Evolution and Revolution in Rare Diseases
RealiseD - Realising clinical trials in ultra-rare diseases
RealiseD unites nearly 40 partners from academia, regulatory bodies, clinical research institutes and hospitals, patient organisations, pharmaceutical companies or European Research Infrastructures to establish new gold standards for clinical trials in rare and ultra-rare diseases. Sigmund Freud Private University and AstraZeneca lead this project, which is funded by the Innovative Health Initiative (IHI) and will run until 2029. RealiseD builds on advancements and outputs from prior and ongoing public private partnerships likeEU-PEARLorScreen4Careand other relevant initiatives, such as ERICA, IDeA orERDERAto co-create tools, methodologies and standards, to enhanceinnovative clinical trial designs. These will incorporatenew methodslike Real World Evidence and digital health technologies. Solutions will result ineasy-to-use playbooks and digital toolsfor planning and running clinical trials.
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
Addressing the cost of inaction in Rare Disease diagnosis through health economic evidence and multi-stakeholder EU and national advocacy
Project Mercury: A Philanthropic Blueprint for Global Rare Disease Collaboration
Exceptional Use of an Orphan Drug for an Ultra Rare Disease
From Science to Story: A Chinese Model for Patient Empowerment
Panel: Measuring the true impact: Evidence Strategies for Paediatric Rare Diseases Access
-Why a holistic approach matters and what we are missing
-Priorities for research and policy change including burden of disability and caregiver impact
-Project HERCULES’new focus:exploring collaborative efforts
Months-Not-Years: Fast-Tracking Pediatric Orphan Drugs in Greater China and SE Asia
How do you assess evidence in Rare? The work of HTAi RDIG
Manufacturing of LNPs with multiple nucleic acids payloads and surface “decoration”
-LNPs with multiple payloads and proteins on the surface are very heterogenous, chromatography approach is required to purify the product.
-Replacing the TFF with OH chromatography improves the product recovery.
-To define the product and to enable the batch-to-batch product manufacturing consistency new analytical methods to characterise the LNP were developed.
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: Intersection of precision targeted therapy and rare disease
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
Accelerating Access: Agile Manufacturing and Development of Orphan Drugs
Transitioning from US coordinated clinical trials to approval in Europe
Conceptualising economic models in rare disease and ultra-rare conditions
ARSACS (Ataxia Charlevoix-Saguenay): Finding Solutions for Rare Disease Patients
Orphan Drug Access Protocol
Panel: Is scientific evidence enough for Personalised Medicine implementation? The case of rare inherited lipid disorders – HoFH and FCS
Pharmacometrics for exceptional use of an orphan drug
Orchestrating global orphan drug launches: early strategy = reliable supply
Will the bubble burst on rare disease and orphan drugs? Paying for innovation and access.
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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