Agenda at a Glance

Orphan Drugs & Rare Diseases - Conference Day 2

Day 2: Wednesday - 15th September 2021

  • Major challenges that each stakeholder encountered during the pandemic.
  • Lessons learned from Covid-19 and how we can benefit from it?
  • How to build specific needs, support, and recommendations for sustainable healthcare systems that provide directions for better preparedness in the future?

  • The aim is to provide an overview of the recent discussions and updates from the European Commission concerning the revision of the orphan drug legislation in Europe.

Pedro Franco, Director for Global Regulatory & Scientific Policy (GRASP), Merck

  • What mobile research nursing is all about.
  • Utilising mobile research nursing in paediatric trials.
  • Giving the child control over their participation in the trial.

Senior Representative, Illingworth Research

  • How to improve patient engagement during studies while collecting standardized, regulatory-grade data.
  • Clinical and hybrid studies to improve real-world data collection for drug development.

Dr. Femida Gwadry-Sridhar, Founder & CEO, Pulse Infoframe

  • What is the state of play in rare and ultra-rare diseases and what needs to happen to have a
    sustainable future?
  • Input gathered from 18 advocacy organisations/healthcare professionals
  • Awareness / diagnosis / access to treatment / driving research and innovation / impact of covid /
    patient perspectives / health economist perspectives of EU drug policy / industry perspective
  • Public perception survey data around awareness of rare diseases and attitudes towards their

Paul Greenland, President EMEA, Amryt Pharma

  • How to close the gap between regulatory approval and funding agreement
  • How do the key HTA and payers operate
  • Samples of high profile reimbursement battles.
  • How to overcome struggles to meet the strict cost-effectiveness threshold for new therapeutics? 

  • Table 1 - Challenges and Opportunities in developing a treatment for rare oncology.
  • Table 2 - Value of partnering with advocacy organizations to create innovative patient-driven solutions.
  • TABLE 3 - Patient-Centric Clinical Development: The importance of patient education for rare disease and advanced therapy trials.
  • TABLE 4 - Building a meaningful partnership in rare disease communities.


  • TABLE 5 - Strategy and Value of Early Access in the US and EU.



  • 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.

Tom Pulles, MD, VP, Head of Medical Affairs & Patient Advocacy, Ultragenyx Europe GmbH

  • History
  • Mechanism: how it works.
  • The increasing number of RPDDs.
  • Past, present, and future value of Priority Review Vouchers.

Christian Girard, Strategic Consultant, Orphan Drugs Industry Advisory & Intelligence

  • Breaking down barriers for access.
  • Strengthening health systems around the world and accelerate 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.