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Day 2

19th Orphan Drugs and Rare Diseases Global Congress 2023 Europe

Collaborations to Accelerate Rare Disease Drug Development and Access

Day 2 - Tuesday 4th April 2023


  • Identify how the rapidly changing COVID-19 environment impacted the lives of the Rare Disease community.
  • The effect of the pandemic on the ‘diagnostic odyssey’ in rare diseases
  • Facilitating the identification of new frameworks to structure day-to-day lives
  • Focus on mental well-being and coping with isolation, while consistent communication relating to health
    and social care throughout was essential.


David Pearce, President of Innovation, Research & World Clinic, Sanford Health

  • International Collaboration and partnerships
  • Access to diagnostics
  • Access to treatments
  • Diverse populations
  • Future directions of RD research

David Pearce, President of Innovation, Research & World Clinic, Sanford Health

  • The key challenges for Rare Disease drug development and access
    what is the EU HTA
  • Description of EU HTA principles and timeline
  • A SWOT analysis of the situation
  • What has been done so far and what next

Sheela Upadhyaya, Chair Elect, Rare Disease Special Interest Group, ISPOR

  • Challenges for commercialization in small markets
  • Changes in the market access and regulatory environment
  • How to priorotize markets – and how not to
  • Success stories

Rüdiger Schulze, VP & GM, Germany & Central/Eastern Europe, Ultragenyx

  • When is the right time for patient organisations to get involved in HTA and access?
  • How can patient organisations and patients be supported to ensure they can maximise their impact?
  • How can the industry work with patent organisations?

Josie Godfrey, Co-Founder and CEO, Realise Advocacy

  • Developing trend and obstacles faced by rare disease clinical trials
  • The foundational value of building collaboration through trust, respect, transparency, and empathy
  • Not all advocacy organizations are alike: assessing the landscape
  • Real-world examples of innovative digital solutions driving collaboration among multiple stakeholders
  • Value of partnering with advocacy organizations to create innovative patient-driven solutions

Panel Discussion: 

Lara Bloom, President and CEO, The Ehlers-Danlos Society


  • The value of expert patients and why they should be paid
  • Case studies demonstrating the benefits patient groups can bring, and issues that arise when they are not
  • How industry can engage the patient voice and move from patient centricity to productive patient

Hannah Harvey, Senior Projects Officer, Beacon for Rare Diseases

  • Good partnership
  • Patient involvement
  • Using the App to collect patient data, where the data has been used, how it has helped to inform decisions
  • Examples of abstracts, and their outcomes

Robert Mitchell-Thain, CEO, PBC Foundation

  • Payers are becoming more aggressive in scrutinizing price and implementing restrictions to patient access
    that have traditionally been reserved for competitive, high budget impact drug classes
  • Recent development in orphan drugs pricing and reimbursement and the impact of those changes
  • Addressing some of the major issues facing payers and orphan drug manufacturers, highlighting the way
    these have been handled by both parties. Implementing measures designed to limit exposure to costs
    associated with orphan drug reimbursement.
  • The origins of nitisinone as a herbicide
  • AKU as the iconic rare genetic disease
  • How a patient group, academics and industry worked together to develop nitisinone for AKU

Nick Sireau, Chair & CEO, AKU Society

  • Breaking down barriers for access
  • Strengthening health systems around the world and accelerating pathways to diagnosis
  • 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.
  • Challenges and opportunities in creating sustainable healthcare for all.
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