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Day 1

21st Orphan Drugs and Rare Diseases Global Congress 2024 Europe

Collaborations to Accelerate Rare Disease Drug Development and Access

Day 1 - Thursday 11th April 2024


  • The total burden of rare disease, which affects not only patients, but their caregivers, family members, and society as a whole.
  • Addressing major logistical and regulatory issues due to minimal clinical research centers and sufficient expertise.
  • Special consideration and flexibility to ensure that vulnerable patients with rare diseases have a sustained pathway to access
  • What challenges still remain to increased equity for people living with a rare disease and their families?
  • Changes in regulations affecting the European market
  • How to find the right patient and design a collaborative clinical trial?
  • Developing strong economic models in demonstrating the value of subsidizing patient healthcare cost
  • Establishing a well-informed sales and marketing plan to ensure a successful market access
  • Engaging and empowering patients
  • 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

Alexander Natz, Secretary General, EUCOPE

  • Implications of the new EU Pharma package
  • Joint EU HTA and impact on local HTA procedures
  • Trends in Orphan Drug pricing
  • New regulations in selected EU countries

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

  • 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.

Nigel Nicholls, General Manager UK/Nordics & Baltics, Egetis Therapeutics AB

  • Learn more about the nuances of Real-world studies
  • Learn about principles for designing RWE studies: protocol, IC, Ethics
  • Key considerations for using digital technology
  • Managing RW studies for successful outcomes Case studies


  • Every data point is precious
  • Optimal relationships with hospital sites are essential
  • Patient centricity must inform all stages of the development process
  • Clinical trial issues most important to individuals living with rare disease
  • Initiating clinical trials that better meet the needs of affected individuals and their families.
  • Building community networks to reach underserved and underrepresented communities
  • The importance of trust building in improving diagnosis and clinical trial participation

Kerry Leeson-Beevers, Chief Executive, Alström Syndrome UK

  • Challenges of Development: The Regulatory and Developmental Environment
  • Prospective Strategies to Overcome the Challenges
  • Role of Big Pharma: Recent Trends
  • Progress that has been made in the development of orphan drugs by pharma industries


  • Clinical breakthroughs
  • Review of the therapeutic means of rare diseases and drug development of rare diseases
  • Progress of treatment of rare diseases in order to provide a reference for clinical use and new drug development of rare diseases
  • Launch success is becoming increasingly challenging in a complex environment
  • Meeting a clinical trial endpoint and gaining a product licence is not always a guarantee of success
  • Early engagement to understand evidence needs reduces value uncertainty and facilitates a successful launch

The AKU Society successfully led the 10 year development programme of the drug nitisinone for the ultra rare genetic disease Alkaptonuria (AKU, or Black Bone Disease). But we are now learning that the disease is even more serious than originally thought and that limiting the drug’s side effects requires a strict low protein diet.
That’s why the AKU Society has launched its own drug discovery and development programme that it is funding at the University of Liverpool in order to develop new drugs that will resolve these issues. Find out at our talk what challenges face patient groups carrying out their own drug discovery programme and how to overcome these.

Nick Sireau, PhD, Chair and CEO, AKU Society

  • Overview of current methods for their prevention, diagnosis, and treatment.
  • Strengths and limitation of current development pathways for new drugs, medical devices, and biologics for rare diseases
  • Special challenges that rare diseases create for research and product regulation
  • Current public policies relevant to product development for rare diseases

Robert Mitchell-Thain, CEO, PBC Foundation

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