Agenda
27-29 October 2025
RAI Congress Center, Amsterdam
Barcelona, 22 - 25 October 2024
Schedule
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WORKSHOP: ElevateHealth: Creating real impact for rare disease Patients [OFFSITE]
How can stakeholders in the healthcare ecosystem solve the complexity together?
This workshop kicks off a joint initiative between Volv Global and Novartis to start up a Big Picture conversation on how we in our healthcare ecosystem can accelerate and optimise patient outcomes and experience throughout the patient journey, taking particular aim at those issues which arise from insufficient coordination across stakeholders and across differences of scale.
This “ElevateHealth” project will attempt to create better understanding of the complex structural and systemic dynamics in the ecosystem at three different levels of stakeholders:
-The Micro level of the individual, i.e., the patient (also including individual physicians and patient representatives)
-The Meso level of healthcare resources, such as healthcare institutions and healthcare systems
-The Macro level of healthcare provision, including payers, insurers, regulators, taking into account impact outside the healthcare systems and its stakeholders, e.g. on society, for employers, non-paid work, etc.
This workshop will focus very tightly on the barriers to adoption of new technology solutions that can 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. The Novartis part of ElevateHealth will take the form of a parallel workshop outside the World Orphan Drug Congress programme on the evening of Thursday, 24thOctober, 2024.
If you are part of the healthcare ecosystem, we welcome you to join us and offer your perspectives to the discussion!
WORKSHOP: Hollistic Approaches to Rare Disease Drug Development: Integrating ESG, Patient Engagement, and Commercial Strategy for Improved EU Access [OFFSITE]
This workshop will be covering:
-Unique challenges in rare disease drug development and the need for a comprehensive approach.
-ESG in Rare Disease: Discuss how environmental, social, and governance factors are becoming increasingly important in the rare disease space.
-Emphasize the social impact of developing treatments for underserved populations
-Discuss ethical considerations in rare disease access to treatment
-Patient Engagement: Stress the critical role of patient involvement throughout the drug development process
-Showcase successful patient engagement strategies
-Discuss how patient input can shape access strategy and clinical trials
-Highlight the impact of patient advocacy on regulatory decisions
-Discuss the importance of early market preparation
WORKSHOP: The Rare Disease Action Plan – How will we implement this? [OFFSITE]
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.
Overall objective of the session if to discuss the different articulations needed between the several stratifications of plans, national, regional and global:
- To identify the interconnections needed
- To ensure efficiency of the system
- To avoid fragmentation of strategy and actions
- To identify the appropriate use of the resources
The session should be an active interactive session between the panelists experts and the participants.
Global, Regional, National plans – How will we implement this?
14:00 – 14:10PM - Opening Remarks from Workshop Leader – Anne-Sophie Chalandon Sanofi
14:10 – 15:10 PM - Testimony and open discussion with the floor - capture the perspective of each participant.
15:10 – 16:30PM Q&A and closing remarks
WORKSHOP: Reducing the Burden of Rare Diseases Across The Patient Journey [OFFSITE]
People living with rare diseases face distinct and significant challenges that arise from the infrequency of their medical conditions, such as a long diagnostic journey, inadequate clinical management, and limited access to effective treatments. The burden of rare diseases on patients, their carers and families, healthcare systems, and society overall, deserves greater visibility and recognition. Addressing these societal challenges requires a multifaceted approach involving stakeholders across the healthcare system, government agencies, research institutions, industry, and patient advocacy organizations.
This discussion will examine the patient perspective and the burdens faced explore what is needed to speed up and improve the patient journey of Europeans living with rare diseases, with clear recommendations for health systems and policymakers.
The session will be broken into two parts:
Part 1 – The Patient Perspective: Patient experiences along the rare disease 'journey'
Part II – 'We all have a role' – multi-stakeholder solutions across the rare disease 'journey' from industry, R&D, AI, HTA and health systems.
WORKSHOP: Never mind the B******S, here’s the EUjHTA basics [OFFSITE]
A pragmatic and interactive demonstration of the essential steps required to successfully prepare an orphan oncology drug for a future EU joint clinical assessment.
This workshop offers a hands-on, practical approach to navigating the new EU joint Health Technology Assessment (EUjHTA) framework, with a focus on orphan oncology drugs. Attendees will gain a clear understanding of the fundamental principles behind the EUjHTA, including its objectives, structure, and importance in the drug assessment landscape. The session will also delve into the timelines and requirements crucial for successful EUjHTA preparation. Through interactive demonstrations and expert insights, participants will learn the necessary steps to effectively plan and execute a comprehensive strategy to meet EUjHTA standards, ensuring a smoother pathway for future joint clinical assessment.
Networking Drinks Sponsored by AscellaHealth
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Opening remarks
Opening Keynote panel: How will Europe remain competitive in the C> and Rare Disease sector? The role of the research and innovation policies for a stronger pharmaceutical strategy in Europe
-How should industry respond in order to keep innovating more therapies for rare diseases?
-How will the pharmaceutical legislation affect R&D in rare diseases, regulation, affordability and accessibility to patients?
-How should each multi-s-takeholder interpret and act upon the proposal and changes in order to gain a more sustainable ecosystem?
-How can we boost research and development to tackle rare diseases and develop orphan medicines?
Keynote panel: 12 weeks to 2025’s EUHTA implementation – are we ready?
-How can we ensure Europe’s R&D and biotechnology policies remains competitive, innovative and sustainable?
-How should industry respond in order to keep innovating more therapies for rare diseases?
-How will the pharmaceutical legislation and EU level changes affect rare diseases regulation, affordability and accessibility to patients?
-How can each multi-stakeholder contribute to a more sustainable ecosystem?
Working Group 1: Case Study: Delivering on patient centricity by systematically embedding patient insights into the lifecycle
Senior Representative, Alexion AstraZeneca Rare Disease
Working Group 2: Shifting Strands: Operational Challenges and Ethical Dilemmas of Genetic Testing
Working Group 3: Changes in orphan drug legislation and patient access
Working Group 4: How can we manage the tension between immediate access to innovation and affordability? The future of rare disease policy poses a crucial question
There has been astep-change inthe number oforphan medicines over recent years andthe pipeline suggests this will continue to the foreseeable future. This isthe result of patient advocacy, government policies andimproved understanding of rare diseases.As spending increases, there willpressureto controlhealthcare. However, given the number of diseases without effective treatment the need to supportthe development of orphan medicinesfrom a societal perspective is as important as ever. We will explore the cost containing measures emerging across countries, identify the potential implications for rare diseases and finally,how to balance these competing objectives.
Working Group 5: Enhancing Patient Involvement in HTAs: Practical Strategies for Stakeholder Collaboration
This working group aims to encourage collaboration among stakeholders in the HTA process to improve patient outcomes through enhanced engagement strategies. We will explore key issues surrounding patient involvement in HTAs, with a focus on how pharmaceutical companies can actively contribute to this critical activity.
Key discussion areas:
- Implications of the new HTA Regulation in the EU, effective January 2025, and how they affect patient participation
- Best practices and ethical considerations in partnerships between pharmaceutical companies and patient advocacy organizations
- Strategies for ensuring that patients receive clear and understandable information about pharmaceutical products during the HTA process
- Patient training programs to enhance their participation in HTAs while maintaining ethical boundaries
If you are a stakeholder in the healthcare ecosystem, we invite you to contribute your perspectives and engage in this crucial conversation.
Chair's opening remarks
Chair's opening remarks
Bridging the Gap: Clinical Trials as a Standard of Care in Rare Diseases
Panel: Acting Now for People Living with Rare Diseases : The Aspire4Rare Example
An EU Action Plan will be a significant milestone for PLWRD, however, while the community continues to advocate for this vital progression there remains urgent work to be done at the national level. Aspire4Rare is an initiative developed by UCB Pharma with the input of experts from the Rare Diseases community. It proposes a Rare focussed health system framework with associated measurement approaches and good practice examples which can serve as a practical tool right now to support action on national policies such as rare disease strategies. In this session we will hear about how the Aspire4Rare framework was developed and how it can be used to support action now.
The Aspire4Rare Global report can be found via the below link:
https://www.ucb.com/sites/default/files/2024-05/UCB_Aspire4rare%20GlobalReport_2024_May27th.pdf
RWD for sustainable access and affordability
Launching ATMPs in the Middle East: Lessons learned and the Road Ahead
Convergence on rare disease and precision medicine – a real drive on drug development
Showcase 1: Uncovering genetically defined patients for improved diagnosis, drug development and commercial strategy
Economic burden of rare diseases
Showcase 2: Azafaros - the latest on our clinical program and our Phase 2 data results
Potential for optimal patient access and reimbursement
Objectives:
-Highlighting factors, including trial design/assessment scales that inhibit greater understanding/realization of value
-Ensuring clinicians and payers are aligned on the endpoints that are most meaningful to patients
-Leveraging video (anecdotal vs prospectively structured) to capture clinical evidence and demonstrate value
-Using video evidence during payer engagements - the when, why, and how of video as an endpoint
Leveraging Compassionate Use Programs to Accelerate Investigational Drug Development in the United States
Innovative approaches to support access to advanced therapies: Multicriteria Decision Analysis
The presentation will address the key uncertainties surrounding the evaluation and decision-making process for Advanced Therapy Medicinal Products (ATMPs). It will also introduce Multi-Criteria Decision Analysis (MCDA) as a comprehensive and systematic tool for assessing innovative therapies, highlighting how it can contribute and complement the evaluation and decision-making process for Pricing & Reimbursement of ATMPs. The presentation will finalise with practical examples of three recent MCDA evaluations of ATMPs from the perspective of key stakeholders
Showcase 4: Metabolic plasmalogen replacement therapy for a rare peroxisomal disorder
Panel: The next chapter in Newborn screening
-Bridging the NBS Gap between LMIC and advanced countries
-Bringing together metabolomics and genomics – how and why?
Showcase 5: Overcoming Data Silos: The Solution to Actionable Genomic Insights
Despite the rapid growth of genomic data, most of it remains trapped in unstructured text, limiting its usefulness for drug discovery and precision medicine. Although genomic data is increasingly available through databases, they are often isolated and not linked to one another.
We pioneered an approach to extract genotype-phenotype information from databases and combine it with high-quality data extracted from the scientific literature using our state-of-the-art Natural Language Processing tool.
This information is integrated into our solution DISGENET, a single resource containing all the information on genes and genomic variants associated with every human disease.
The data is enriched with metrics and annotations to empower users in identifying actionable insights.
Learn how DISGENET expedites drug R&D and addresses key bottlenecks in clinical genomics. DISGENET empowers researchers and industry professionals to leverage genomic and biomedical data, making it an indispensable tool for advancing drug research and precision medicine.
Diversity and Equity in Clinical Studies: Impact on Rare Disease Studies
The FDA's diversity guidance for clinical trials marks a significant step towards equity in medical research. This presentation will help us to understand its impact on sponsors, patients, and advocacy groups. Sponsors must now adopt inclusive trial designs and recruitment strategies, while patients gain improved access to tailored treatments, fostering trust. Advocacy groups play a pivotal role in raising awareness and engagement among underrepresented communities. In the context of rare disease trials, where identifying patients is exceptionally challenging, striking a balance between inclusivity and sufficient enrollment is crucial. This presentation will explore the potential of FDA diversity guidelines across medical research stakeholders, addressing the nuanced challenges of patient identification and trial participation in rare disease research
Challenges of Late onset Rare diseases – recommendations from the COLLABORATE Consensus Paper
Rare diseases significantly affect patients, families, and caregivers, with challenges arising throughout life, regardless of the age of diagnosis. These challenges are often more pronounced for those with adult-onset rare diseases, typically diagnosed after 18, who may face additional age-related difficulties. Many countries lack rare disease frameworks, and existing ones primarily focus on childhood-onset diseases, neglecting adult-onset cases. Even the few frameworks for adult-onset rare diseases are often inactive. In October 2022, 29 patient advocates, 8 healthcare professionals, and 4 policymakers gathered in Athens for COLLABORATE I, a summit to address the challenges of adult-onset rare diseases and seek solutions.
This resulted in a consensus paper that described three key areas where challenges exist.
·Delays to diagnosis of adult-onset rare diseases
·Unequal access to adequate treatment for people with adult-onset rare diseases
·Inadequate coordinated care and support for people with adult-onset rare diseases
STRUCTURE OF THE SESSION
-What is different about adult-onset rare diseases that is important for policy makers to understand?
-How can industry colleagues better understand these challenges and incorporate solutions into the work they do in the development of new therapies and access decisions?
-What role can PAGS play in raising awareness about adult onset rare diseases?
Rare disease case-finding with the NHS: Learnings and Opportunities
Roctavian: how NOT to launch a gene therapy
Showcase 6: ExoPTEN-First orphan designated medicinal product containing extracellular vesicles for the treatment of CNS injuries
Children born with Osteogenesis Imperfecta: building healthy bones through cell therapy
What kind of data/assets can patient groups bring into pre-clinical or clinical development?
Congenital Central Hypoventilation Syndrome: on the way towards a treatment
InGenuITy® - Transforming Rare Respiratory Disease Outcomes Using Inhaled Gene Therapy
Sustainability of lifetime dosing for antisense oligonucleotides in rare diseases: The need for scalable national models
From Complexity to Clarity: Overcoming Reimbursement Challenges for Orphan Drugs
Together for Rare Diseases: Learnings from pilot projects
Advancing Platform Technologies for RNA therapy development and Regulation for Rare Diseases – The ERDERA approach
Drive for change: paradigm shifts to accelerate rare disease drug development
Panel: Innovative funding mechanisms and business models
Innovating for the uncommon: Almirall Commitment to Rare Skin Diseases
Efficient drug repurposing and screening for rare diseases via Cell Painting
Cell-Painting has opened up new avenues for sophisticated drug screening and repurposing. Using morphological profiling of cells stained with multiple dyes, we capture rich information through microscopy imaging that allows us to identify drugs that phenotypically reverse cells from a disease state (defined by patient-derived cells) towards a normal state (defined by negative control-healthy) cells. At Phenaros, we have developed an advanced automated discovery platform leveraging a robotized lab that generates the highest quality data, integrated with cutting-edge AI methods for experiment design, image analysis, and data analysis. In my talk, I will showcase our platform’s capabilities, as well as successful applications in drug repurposing for antivirals and rare diseases.
Start-up pitch: Cellbyte - AI in rare disease P&MA: How to enhance your launch strategy with Cellbyte
Leveraging the Real World Evidence in Natural History Studies for Rare Disease Clinical Trial Design: RWE and the Value Proposition
Leading the Way: Streamlining Commercialisation of Rare Disease Therapies, Supporting Access, and Improving Patient Outcomes
Panel: Evidence Assessment in rare. Why do we need a change in Paradigm. The work of HTAi RDIG
Panel: EU General Pharmaceutical Legislation – Europe’s Biotech Innovation for Rare Diseases in the Balance?
On 24 January 2024, EuropaBio published a new study analysing the expected impact of the GPL on the biotechnology innovation ecosystem which concluded that the GPL would have significant impact on innovation for rare diseases in the future.
-What would be the expected impact of the GPL on biotech innovation and innovators for rare diseases?
-What improvements can be made to ensure a sustained flow and growth of biotech innovation for rare diseases?
Exploring UAE’s Clinical Research Landscape on Rare Disease
UAE: A Rising Research Hub: The UAE has rapidly positioned itself as a key player in clinical research for rare diseases, fuelled by a commitment to healthcare innovation and a patient-first philosophy.
Regulatory Framework: A robust regulatory framework in the UAE actively supports and streamlines clinical research, enabling groundbreaking studies in the rare disease domain.
Talent Development:Investments in talent development are central to the UAE's research strategy, focusing on upskilling local researchers and clinicians in rare disease methodologies.
Patient-Centric Approaches:The UAE prioritizes patient-centric approach, engaging patient community and advocacy groups
Start-up pitch: Ablevia - Injectable Decoys for the Selective and Rapid Removal of Anti-Drug and Anti-Vector Antibodies
Start-up pitch: Red Thread - Creating brilliant value propositions and evidence generation strategies for reimbursement success in rare diseases
EU’s Rare Opportunity: Navigating the new Joint Clinical Assessment route in Europe
Lessons learned from the planning and execution of a 5-year prospective natural history study in an ultra-orphan paediatric disorder
SmPC at the Heart of EU JCA: Shaping Decisions, Driving Access
RARE-XTRACT: A case study of data enrichment, labelling and value extraction from unstructured Rare Disease Electronic Medical Records leveraging NLP
MoCA as an alternative as an EU HTA Scientific Consultation
Networking Party Sponsored by Alexion AstraZeneca Rare Diseases
Join us at the Museu Nacional d'Art de Catalunya for stunning terrace views
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Keynote Panel: The Rare Disease Action Plan – where are we and how to integrate this from a European to a national level for real impact?
-What have we learnt from the last presidencies – how does the future of rare diseases look with Belgium and now Hungary’s leadership?
-How is each country executing their national action plan and are they involving their local policy makers?
Keynote panel: How much weight does the patient voice carry when it comes to influencing clinical trials, policy and orphan drug approvals?
- Are the current policy and regulatory frameworks helping or hindering patient access to medicines?
- How can clinicians and healthcare professionals help in developing clinical trials and regulatory pathways?
- How has the way we develop orphan drugs evolved over time (from policy, technology to engagement) with patients?
Chair's opening remarks
Chair's opening remarks
Chair's opening remarks
Chair's opening remarks
Practical Approaches to Including Patient Advocacy Organizations in Your Drug Development Program: Not Only Why, But How
The session will discuss the ways Patient Advocacy Organizations play a vital role inall partsof the drug development process, from pre-clinical to post marketing in rare diseases. The discussion will highlight the essential tools needed to harness the power of collaborative partnerships to move science from bench to bedside
Learning outcomes:
-Understand how patient advocacy organizations drive therapeutic development in the rare disease space
-How to effectively engage and partner with patient advocacy organizations to develop meaningful treatments
-Gain insight into the “how, when and where” patient advocacy can significantly impact the drug development process
Panel: Strategic Evidence Generation - Exploring Multiple Stakeholder Needs
The evidence-generation process for orphan therapies presents a unique set of challenges due to the rare nature of the diseases they treat. The panel will discuss the challenges and opportunities different stakeholders face when compiling and presenting evidence for orphan drugs.
Unlocking Market Potential: Strategic Use of Real-World Data Collected During Managed Access Programs in HTA Submissions
Panel: Accelerating rare disease diagnosis beyond birth
-Genetic newborn screening and digital technologies
Panel: What are the impacts of rare designation?
Cross stakeholder recognition of the status of rare is important for patients, industry and regulators, highlighting the unique challenges in the diagnostic odyssey and therapeutic development and access pathways. This session will ask to what extent does rare designation makes a difference, what’s missing and how might we work together to ensure alignment and harmonisation.
The value of patient Involvement: combating stigma, discrimination and celebrating strengths
Diversifying Rare Disease Research: Strategies for Expanding Participation
-Global diversity regulations and guidance
-The importance of inclusivity
-Strategies for increasing diversity
The Growing Influence of Patient Voices in Rare Epilepsies
Panel: Optimising Value Demonstration & Evidence in Rare Disease
Navigating the Uncharted: Patient Experience Mapping in Rare Disease
Applying AI system for Diagnosing Mendelian Disorders
Unique Challenges in Recruiting Patients for Rare Indication Pediatric Studies: Overcoming Difficulties through a Site and CRO Perspective
Recruiting patients for rare pediatric studies presents unique challenges that require specialized strategies. This session will delve into the complexities of patient recruitment in rare pediatric populations from a CRO perspective as well a world leading pediatric clinical site: Sant Joan de Déu. Insights and lessons will include:
-Effective pediatric rare disease recruitment strategies
-Concierge level patient support to reduce patient burden
-Embedding Clinical Research into a hospitals core strategy
-Holistic approach to patient and family care
-Aligning Government Policy to help with recruitment
-Utilization of real-world protocol simulations to avoid costly protocol amendments.
Messenger RNA is a promising treatment for inborn errors of metabolic disorders
Health Equity: UNICAS project as a case study in industry-state partnerships for RD Innovation
The Rare Barometer Programme: the survey initiative of EURORDIS-Rare Diseases Europe
Volume and willingness to pay – strengthening access to medicines for rare diseases to sustainable costs
Working Group 6: EUjHTA: Discussion on the practical steps to take with 70 days to implementation
Senior Representative, RDI
Working Group 7: Use of AI – Expectations vs Reality in small data sets/populations
Senior Representative, IRDiRC
Working Group 8: R&D Funding Models
Breaking Down Barriers: Leveraging Direct to Patient, Direct from Patient, and Home Healthcare in Rare Disease Studies
Traditional clinical trial models often struggle to reach underserved patient populations in rare diseases.This presentation will explore innovative patient-centric solutions,including direct-to-patient (DtP),direct-from-patient (DfP),and home healthcare (HHC),that can break down barriers and improve access to clinical trials.By leveraging these approaches,researchers can accelerate drug development,enhance patient outcomes,and advance the understanding of rare diseases.
Key Takeaways:
-Understand the unique challengesfaced by underserved patient populations in rare diseases.
-Discover howDtP,DfP,and HHC can overcome barriers to clinical trial participation.
-Learn practical strategiesfor implementing these patient-centric models in rare disease studies.
-Explore innovative technologiesthat can facilitate remote patient engagement and data collection
Maximizing Value & Positioning in the Emerging Competitive Rare Disease Arena
With increasing numbers of rare diseases served by multiple approved therapies, we are seeing the return on investment for Orphan Drug incentives and the emergence of competitivearenas. Given the unique challenges in rare diseases, howcould policies evolve and where should industry focus their effortstomeet payer evidence expectations and effectively position in the evolving environment?
Unlocking Imaging Biomarkers in Rare Lung Disease Through Curated Real-World Data
Over the past seven years, the Open Source Imaging Consortium (OSIC) — a global 501(c)(3), not‑for‑profit cooperative effort between academia, industry and patient advocacy groups — has built the largest and most diverse, cloud-based, real-world dataset for fibrosing lung diseases.
This model and collaboration engine offers a promising approach for addressing other rare diseases:
-Discover how OSIC has tackled real world data challenges like quality, missing data and reliability to support the efforts of dozens of machine learning experts working with this data.
-Learn about the three FDA approved algorithms already in clinical practice thanks to OSIC’s curated dataset, and see examples for other rare diseases.-See real world advancements in OSIC algorithms, which are uncovering atypical and early-stage fibrosing disease through lung cancer screenings.-Explore the multimodal, real-world evidence pilot study OPUS, designed to understand variables
Panel: Focusing on patient uptake of rare disease treatments
-Patient, HCPs, clinician perspectives
-How do we involve all voices in the clinical development process?
Panel: Interconnected Solutions: Global Networks for Rare Disease Research and Care
Panel: From global to local: partnering for patient centered policies beyond Europe
The panel aims to highlight the synergies that can be developed between the global and local levels to support policy shaping that addresses the needs of the rare disease communities and help identify what are key success factors to drive policy change locally and translate global commitments into impactful actions for PLWRD.
The panelwillexplore what is currently existing and what is on the horizon for rare diseases globally, and invite panellists from China, Spain, the UAE, Canada, and Brazil, as well as the audience, to share examples and reflect on how these global frameworks can be leveraged to create traction nationally and locally. The panel will also explore how we can build on local good practices existing “on the ground” within different healthcare models.
Out-of-the-Box Ideas for Rare Disease Patient Advocacy in Europe
Panel: The Role of Basket & Umbrella Clinical Trials in Tackling Rare Diseases
Statistical benefits, efficiencies, and considerations, in selecting a basket or umbrella trial design
Adaptive medical monitoring strategies to support master protocol frameworks
Effective management of multi-arm clinical trials, from patient recruitment to data collection
Panel: Access and HTA pathways for OMPs – do they improve access and drive incentive for innovation?
Public-Private Partnerships to accelerate development and boost innovation in Rare Diseases
- the evolving landscape of European health policy, this high-level panel brings together key stakeholders to address a critical yet often overlooked issue: the urgent need to enhance collaboration between European Reference Networks (ERNs) and industry in rare disease research.With a new EU leadership, this discussion comes at a pivotal momenttoshapethe future of rare disease policy and research prioritization.
- Leveraging public-private partnerships to accelerate innovation
- Proposals for a "sandbox" framework to facilitate agile collaborations
- Enhancing patient involvement in shaping research priorities
- Addressing funding challenges through novel mechanisms
As we anticipate the Hungarian Presidency's focus on rare diseases and look ahead to the Polish and Danish Presidencies, this panel will generate actionable insights to inform policy recommendations. Our goal is to catalyze momentum for an EU Rare Disease Action Plan that embraces the power of ERN-industry collaborations.
Despite progress, 95% of rare diseases still lack effective treatments,highlightingthe imperative for innovative partnerships. This panel will explore how to overcome regulatory, funding, and capacity barriers that hinderoptimalERN-industry collaborations. By bringing together voices from patient advocacy, clinical research, policy, and industry, we aim to forge a path towards a more collaborative and efficient rare disease research ecosystem in Europe.
Key topics include:
Panel: How does access to healthcare, treatment and diagnosis differ across Europe?
Celebrating 5 years of EDS ECHO – Education, Empowering and Expanding Horizons
Panel: Preparing the patient community for advanced therapy trials: How stakeholders can work together to ensure advanced therapy clinical trials are optimal for everyone
Mapping Rare – a world of rare disease advocacy
Patients voice in clinical trials design and outcomes
Delivering Strategy, Advocacy & Partnering for Orphan Drugs in Spain
Panel: Creating Pathways to meet opportunities and challenges of ultra-rare diseases
Joint Clinical Assessment: Aspirations and Implications for rare disease and oncology market access
Pathways Telehealth Nurse Service for rare and genetic conditions
Keynote: How do we reinvent the healthcare system to meet the demand of not only rare diseases, but potentially all patients in future?
-By 2025 we will have many more gene therapies/ATMPs in development/approved. With this future healthcare systems cannot have bespoke solutions for each new ATMP, how can industry work with the healthcare system to build models of care that are effective and sustainable
-How can industry create solutions facilitate patient access to gene therapies?
-How can companies and the healthcare system work together to make it more equitable?
-What role can clinicians and patients play in developing a system that is efficient and delivers the outcomes expected?
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Keynote Panel: How to create a sustainable and robust pipeline for rare diseases and gene therapies
-How will gene therapies impact future pipelines?
-What are the remaining scientific challenges? Selecting indications, tissue targeting/distribution, immunogenicity, limitation of vectors
-What are the remaining commercial and post market evidence challenges?
-How will the regulatory science adapt to our innovative medicines?
The use of RWD in orphan drug development and access pathways
-Where does real world data fit in the evidence hierarchy for developing orphan medicines?
-What are the opportunities and challenges for using real world data generated from rare disease patients?
-How can innovative approaches help to integrate real world evidence in supporting effective decision making by different stakeholders?
-Is there good alignment between decision makers on the value of real world data?
Paediatric clinical trials – yes we can
Challenges for defining value in Rare Diseases: the case for Duchenne Muscular Dystrophy (DMD)
Successful development of new treatments for rare diseases and their patient access require overcoming a series of challenges when defining value during the health technology assessment (HTA).
As potential new treatments for Duchenne Muscular Dystrophy near the market, understanding the factors that influence society’s willingness and ability to pay for these treatments will be central for assessing their value. Traditional assessment focusing on cost-effectiveness or budget impact would need to evolve to consider broader elements of value to enable a more holistic approach to value innovation.
Patient Experience Data and regulatory use
Panel: Equitable genomic data principles: leveraging NGS technologies for global health equity
Panel: Impact of rare disease on mental health and wellbeing - building understanding of the link and impact of rare and complex diseases on mental health and improving outcomes
People living with a rare condition are either crisis managing or are alone and when they are alone, the psychological impact of the rare disease journey hits not just the affected individual but the whole family. It is not surprising that as a community, we have focused on searching for an expert who can give a diagnosis, searching for a treatment and pushing research to find a cure. For too long the unmet mental health needs of the rare disease community has remained unseen and neglected, frequently overshadowed by the other medical complexities. The young citizens, under the Rare 2023 foresight study have called for us to now look beyond the physiological symptoms and take action to address the psychological impact that is associated with rare conditions.
The impact of rare conditions on mental health is now starting to get recognized, as studies have shown that >90% of PLWRD surveyed felt worried, anxious, stressed and/or depressed and 19% had suicidal thoughts (Spencer-Tansley 2022). Despite this significant impact, 85% of PLWRD are not offered or received sufficient psychological support in an Expert Centre (Courbier et al. 2017; Nunn et al. 2017). Also, whilst progress is being made with the developments of new therapies and treatments, 95% of rare conditions till do not have an active treatment which results in living with chronic uncertainty and anxiety.
Session Overview:
The aim of the session is to identify what support groups representing those living with rare conditions, clinicians and industry partners do to reduce the impact of rare conditions on mental health and wellbeing.
The session will specifically:
· Share the growing body of evidence that quantifies the impact of living with a rare condition.
· Sharing tools and approaches that have worked for the support groups to help their communities through the undiagnostic odyssey, through to accessing the care and support.
· Sets out what clinical services can do to integrate psychosocial care for PLWRD.
· Explore how industry partners have providing support to the rare disease communities.
· Explore thechallenges and opportunities in performing researchon the impact of rare conditions on mental health; and on QoL tools, PROMs and PREMs used inperforming trials.
The session will be interactive with the participants contributing through surveys using Mentimeter.
Fostering the innovative methodological approaches in clinical trials
Panel: A New Beginning? The EU Biotechnology and Biomanufacturing Initiative Opportunities for Investment into Rare Disease Innovation and delivery
Panel: How to implement GT/ATMPs into the healthcare system, they can’t make a bespoke model each time
Panel: How to create value of patient input to HTA
Ethics and regulatory guidance for not-for-profit research for rare diseases: the experience of a European funded programme
Innovative funding models to support Rare Disease
Senior Representative, IRDiRC
Use of medical devices in trials – how do they change the way we receive data and the patient experience?
Panel: Collecting Real World Data that is useable as RWE
-Challenges of standardization and generalizability, validity, reliability and analysis
Panel: Join together to optimize ATMP development pathways in the EU
More to be confirmed..
Panel: From evidence to practice in Rare Diseases: ERN Guidelines Programme and Patient Involvement
-Methodological CPG development approach in Rare Diseases. Guidelines Program and Patient Involvement Handbook. Content: European Program description (working packages, methodological products, training procedures, participants (clinicians, methodologists, patients) and outcomes, among others. Methodological handbooks, in special the HB focused on Patient involvement in rare diseases.
-Clinical profile. Experience from a clinical expert collaborating with the clinical guidelines’ development in rare diseases. Need of having clinical documents based on the evidence for the diagnosis and treatment of rare diseases. Applicability, utility, collaboration and support.
-Patient outcomes. Experience in patients with rare diseases from the industry´s point of view (PROMS and PREMS). Challenges of applying the evidence assessment framework evidence-based medicine in rare diseases.
-Worldwide Guidelines and evidence generation: 1 expert from the international perspective
The Five Principles of Self-Advocacy & Your Mental Health Toolbox
Truly Patient Centric trials – Optimizing submission to regulatory
Supporting rare disease patient advocacy and awareness: the global challenge
Patients as Partners: Driving Change Together
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