23rd Orphan Drugs and Rare Diseases Global Congress 2025 Europe
Addressing the challenges in drug development, treatment availability, and access.
Copthorne Tara Hotel London Kensington, London, UK, London, United Kingdom
Wednesday 19th - Thursday 20th March 2025
Event Introduction
FACILITATE LIVE is proud to present our Orphan Drugs and Rare Diseases Global Congress 2025 Europe. It’s the 23nd in the series of our Flagship Orphan Drugs & Rare Diseases events. This congress will provide you with a comprehensive overview of the critical issues shaping the future of Orphan Drugs.
An estimated 300 million people live with rare disease globally, an estimated 36 million in Europe. 80% of rare diseases have a genetic cause, almost 70% of which present in childhood. Collectively, people living with a rare disease represent one of the largest underserved patient communities in the world, with only 5% of known rare diseases having one or more approved treatments. The average time for an accurate diagnosis takes 4·8 years; and about 30% of children with a rare disease die before the age of 5 years. The complex biology and lack of understanding of the natural history of rare diseases makes drug, biologic, and device development in rare diseases very challenging. However, there is limited medical expertise and knowledge about rare diseases, and fewer than 1,000 diseases have even minimal scientific knowledge. Accurate diagnosis and treatment for these diseases has also been teeming with regulatory and logistical barriers. There is an urgent need for a regulatory framework that encourages safe therapeutic innovations and helps ensure their timely access to patients.
According to reports, the global Orphan Drugs Market size has reached a value of USD 214.8 Billion in 2023. looking forward, the market is projected to reach USD 541.3 Billion in 2032, at a CAGR of 1o.5% during the forecast period, 2024-2032. This growth has been driven by several factors such as increasing prevalence of rare diseases exhibited by the growing number of people affected by Rare diseases and rare cancer. Supportive government regulations and policies also helps to drive the market. Increasing R&D initiatives and investments by prominent players and patient advocacy involvement have resulted in major pharmaceutical breakthroughs. The development of blockbuster drugs for the treatment of several rare diseases and advances in genomics and personalised medicines will create opportunities and contribute exponentially to the overall market growth.
The two-day Congress will provide an interactive, cutting edge, and comprehensive discussion and networking format led by key experts with intimate knowledge in the industry. Gain practical strategies and best practices on challenges, innovations, technologies, and concepts surrounding orphan drugs and rare diseases.
We look forward to meeting you at the Congress!
Sincerely yours,
Jocelyn Raguindin
Conference Director
Facilitate Live
Who Should attend:
This congress is specially created for valued stakeholders in the Rare Disease community:
Presidents, Heads/Chiefs, VPs, Directors, and Managers in the area of:
- Clinical Research
Organizations - Research and Development
- Personalised Medicine
- Regenerative Medicine
- External R&D Innovation
- Innovative Medicine
- Rare and Ultra-Rare Diseases
- Cell and Gene Therapy
- Translational Science
- Molecular Geneticist
- Program Management
- Patient Advocacy Groups
- Public Affairs
- Medical Affairs
- Regulatory Affairs
- Market Access
- Pricing and Reimbursement
- Health Economics Outcomes Research
- Commercial Development
- Investments and Funding
- Product Specialist
- Global Strategic Services
- Business Planning &
Operations - Pharmacies
- Academia
Gain The Latest Insights On:
- Current Orphan Drugs landscape
- Major drivers in the global rare disease market
- Key developmental strategies carried out and Influencing factors that
may affect market share to stand out in this industry - How is FDA managing orphan drugs during the pandemic?
- Finding innovative and alternative ways in funding the development
of Orphan Drugs - Patients perspective: what really matters to rare disease patients and
caregivers? - Key authorities facilitating development and approval of diagnostic
products/services - Coming Together in Developing Orphan Drugs and Crossing Borders
- Trends and evolution of Advanced Therapy Medicinal Products
How Can the Developer and the Patient Assist in the Evolution and
Development of Orphan Drugs to make it accessible to patients in a
shorter period of time? - Strategies to improve Access and Affordability
- What Do Developers Look for When Looking for an Outsourcing
Partner? - What Do Insurance Companies Think About Orphan Drugs? Will
They Make Modifications
LANDSCAPE OVERVIEW & CURRENT TRENDS
- Addressing the potential gap in the framework and policy recommendations which support the broad range of people experiencing rare conditions.
- Strategies for more efficient ways of utilising data for earlier detection and diagnosis of rare diseases
- Ensuring equity in access to specialised care and innovative treatments.
- Improving the delivery of clinical research and communication
Moderator:
Panellists:
- Progress update on the actions set out in previous plans
- New actions included in the Rare Disease Action Plan for England from 2024
- Ensuring the plan delivers for people affected by rare conditions
- Disrupt encourages groundbreaking solutions that fill unmet medical needs.
- Adopt focuses on strategies to ensure market acceptance through regulatory approvals and commercialization.
- Collaborate highlights building partnerships across academia, industry, and regulators.
- Manage emphasizes effective leadership and risk management.
- Adapt stresses flexibility in dynamic regulatory and market environments.
- Resource centers on optimizing financial, human, and technological resources.
Dr James Levine, President, Fondation Ipsen
- The European Parliament is currently reviewing the Pharmaceutical Package, which will potentially be voted on in April – this new text will outline the incentive and regulatory ecosystem for OMP developers. This will be a major milestone in the legislative review.
- The outcomes of these discussions will shape the landscape for OMP developers in the EU for the next 20 years.
- Reflect on the changes taking place outside the scope of the legislative framework, including the role of PPP and ERNs
- Practical challenges in conducting orphan drug clinical trials
- Technical aspects of clinical trial design for rare diseases
- Analytical and statistical considerations for clinical trial designs
- Recommendations for improving the clinical trial design of rare diseases
- This presentation will focus on the role of RWD in natural history and patient registries.
- How data can be utilized to help inform study design
- The use of RWD as an external control and to find eligible patients for trials
- Using RWD with prior clinical trial data to better understand patient outcomes.
Dr. Femida Gwadry-Sridhar, Founder and CEO, Pulse infoframe Inc.
RESEARCH & DEVELOPMENT
- How to accelerate drug repositioning?
- Preclinical models and drug testing
- Fast-tracked drug access for patients
Prof Guillaume Canaud, Translational Medicine and Targeted Therapies Unit, Necker Enfants Malades
- Overview of the current trends and recent advancements in NGS technology
- NGS applications in research and diagnostics
- Challenges encountered and future directions of NGS technology
- Different types of nucleotide-based therapeutics?
- What are the advantages of nucleic acid therapies
- Addressing the challenges with the safety and efficacy of these technologies in clinical practice
- Accelerating nucleotide-based therapeutic development through collaborations
- Muscular dystrophy as paradigm for orphan drug development
- Most promising gene therapies strategies for the treatment of muscular dystrophy
- Future perspectives; orphan drugs in the pipeline
Alberto Malerba, Gene Medicine Laboratory for Rare Diseases, Royal Holloway, University of London
- Role of RWD/E in orphan disease drug development
- Pitfalls in the use of RWD/E in orphan drug development
- Repurposing and RWD/E
Surabhi Verma, Chief Medical Officer, Leadiant Biosciences
- Remarkable advancements in rare disease research
- Addressing obstacles in development of new treatments and access to trials
- Significant challenges faced by orphan drug developer
- Key initiatives that can guide collaborative approaches and innovative strategies to accelerate progress in the rare-disease field.
- Drug repurposing for rare disease
CHALLENGES AND OPPORTUNITIES
- Demonstrating the unique challenges of developing a drug for rare diseases.
- Ways that patients can be involved in designing patient-centered clinical trials
- Challenges to patient engagement in rare disease research such as operational considerations
- With focus on the need for collaboration in this space
Moderator:
Panellist:
Dr Pooja Takhar, Joint Chief Executive, Tuberous Sclerosis Association
Daniel O’Connor, Director, Regulatory Policy and Early Access, ABPI
- There is currently no global agreement on the impact and widespread application of advances in molecular sciences and pathology on the definition of a rare condition
- Defining rare conditions in the era of personalized medicine includes subsetting of common conditions, sub- setting of rare conditions, individualized treatment options and shared molecular entity conditions.
- A broader consensus view of what rare means will help maximize the impact of technological advances in therapeutic development programmes
Daniel O’Connor, Director, Regulatory Policy and Early Access, ABPI
- Define precision medicine and highlight current developments
- Present an overview of disease populations and sub-populations – both generally and from a regulatory perspective
- Present case study of Tofersen and MND which highlights impact of appropriate sub-population identification
- Talk about the policy ask for disease subpopulations
- Draw more general conclusions with regard to precision medicine and patients
Usman Khan, Chair, Motor Neurone Disease (MND) Association
- Rare Disease Epidemiology
- Brief history of Rare Disease recognition
- A brief review of the development of Genomics
- The role, importance and benefits of Rare Disease surveillance
Dr Peter Davis, Chair, British Paediatric Surveillance Unit Scientific Committee, Bristol Royal Hospital for Children
- Innovative application of mRNA therapy for treating Alkaptonuria (AKU)
- He will discuss the challenges and successes in doing so in pre-clinical models and plans for the future
- Broader implications of mRNA therapy in the context of rare diseases, expanding the research beyond AKU to include other conditions like Phenylketonuria and Hereditary Tyrosinemia Type 1
- The presentation aims to engage stakeholders in understanding the potential of mRNA therapeutics to transform treatment paradigms for rare genetic diseases.
Nick Sireau, CEO and Chair of Trustees, AKU Society
- Establishing Trust and partnership
- Using 3rd party agencies as a networking, capacity and bridge building partners
- Building joint successful advocacy campaigns
- Exploring ethical issues and barriers in joint working
- What does best practice look like now and in the future.
- The number one reason patients don’t participate in clinical trials is because of the burden of travel. We can solve that problem.
- Patient advocates spend too much time away from their family to fundraise. We can solve that problem.
Luke Rosen, CEO of Rescue7: Firefighters for Patients
ACCESS & COLLABORATION
- This session will examine how we can all leverage this resolution with and within our health systems to make the patient voice count more, count better, and count more sustainably.
Amanda Bok, Chief Strategy Officer, The Synergist
- Bullet points to follow
Lindsay Randall, Founder, CEO, Mother, Arthur’s Quest
- Why is patient advocacy beneficial to research?
- Understanding of elements contributing to meaningful ways of involving patients in research
- Advantages of involving patients early in research
- What else needs to be done?
Carole Scrafton, Director & Co-Founder, Flutters and Strutters
- Aligning with payers and health policymakers around the rare disease policy agenda.
- Leveraging advanced data analytics to support clinical evidence
- Fully engaging patient and caregiver communities
- Creating innovative approaches to funding and contracting
- Sustainable model addressing both affordability and access
Moderator:
Panellists:
- Strengthening health systems around the world and accelerating pathways to diagnosis including EU- sponsored international initiatives
- How can the work from the public and private sector help in accelerating research and raise awareness in rare diseases?
- How innovation, research and investments are key to accelerate the development of treatments?
- How the next Commission and Parliament can support the future of rare disease treatment?
- Stakeholders to address the rare diseases’ ecosystem gaps to collaboratively build a sustainable roadmap for better health and a brighter future for the patients suffering from rare diseases.
Moderator:
Panellists:
Co-located
Orphan Drugs & Rare Diseases Congress will be Co-located with the 8th Expanded Access Programmes 2025 Europe. Shared Exhibit & Networking Area.
Website: www.expandedaccess.co.uk