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
Day 2 - Thursday 20th March 2025
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: