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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

Josie Godfrey, Director, JG Zebra Consulting, Joint CEO, Realise Advocacy 


  • The National Disease Registration Service (NDRS, NHS England) collects patient data on cancer, congenital anomalies and rare diseases, and provides expert, timely analysis to support clinical teams, academics, charities and policy makers to help plan and improve treatments and healthcare in England.
  • The talk will illustrate how collaboration with NDRS can provide whole-population actionable insights into rare disease occurrence, treatment and outcomes.
  • This can inform health policy and deliver pioneering rare disease research

Peter Lanyon, Rare Diseases Clinical Lead, National Disease Registration Service, NHS England

  • 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

  • The impact rare disease patient organisations can have on access decisions
  • Challenging conventional approaches to patient engagement in access
  • Planning for success

Josie Godfrey, Director, JG Zebra Consulting, Joint 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


Florence Barkats, Patient Advocate, NHCollab

Lara Bloom, President and CEO, The Ehlers-Danlos Society
Anthony Hall, Chief Medical Officer, Healx
Bob Stevens, Group CEO, MPS Society/Rare Disease Research Partners


  • 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

  • Strategy
  • Team
  • Indications
  • Scouting
  • Funding
  • Walk the talk

Christian Girard, Co-founder, OrphaPedia

  • 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.

Josie Godfrey, Director, JG Zebra Consulting, Joint CEO, Realise Advocacy

Anthony Hall, Chief Medical Officer, Healx
Nick Sireau, Chair & CEO, AKU Society
Robert Mitchell-Thain, CEO, PBC Foundation

Josie Godfrey, Director, JG Zebra Consulting, Joint CEO, Realise Advocacy

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