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Day 1

19th Orphan Drugs and Rare Diseases Global Congress 2023 Europe

Collaborations to Accelerate Rare Disease Drug Development and Access

Day 1 - Monday 3rd April 2023


  • Understanding the challenges in planning and implementing a global EAP
  • Country specific framework and requirements to access investigational drugs
  • Scientific elements and regulatory tools available to address the challenges and explore the flexibility within the current regulatory systems
  • Significant degree of administrative effort required to initiate the programme for a timely access
  • How far are we from establishing harmonised guidelines across Europe?

Nicola Gillott, Head of Expanded Access, Amryt Pharma
Pedro Franco, Director for Global Regulatory & Scientific Policy (GRASP), Merck
Graham Sidorowicz, EVP Commercial, Bionical Emas

  • Setbacks happen to every organization. How do some leaders turn them into big success while others stay stuck?
  • The key questions to ask to move from frustration to innovation and transform your organization’s journey.
  • The world is open to new ways of thinking – how will we capitalize on this to accelerate rare disease research and advocacy??

Kristin Smedley, CEO, Curing Retinal Blindness Foundation

Regulatory Challenges on Early Access Programmes

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

  • Understanding the disease area and impact on the patient and family
  • When to engage with patient advocacy organisations and the value they can bring
  • Best practices to ensure patients are partners in your clinical development process

Graham Sidorowicz, EVP Commercial, Bionical Emas
Naomi Litchfield, Director, Patient Advocacy, Bionical Emas

  • 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

Florence Barkats, Chief Commercial Officer, CISIV Ltd

  • Before considering Early Access Patient Organisations & Patients need to be engaged much earlier in the
  • Think Natural History
  • Think Reimbursement not Approval
  • Understand what it is that you want to demonstrate and how (Biomarkers – science fiction not real world)
  • Don’t just think data – Think about telling a story

Bob Stevens, Group CEO, MPS Society/Rare Disease Research Partners

  • The market access perspective – when and how expanded access is helpful
  • Expanded access in the context of the overall access strategy
  • Going beyond the large countries to a global strategy

Robert Palmer, Head of Value & Access Oncology, APAC, MEA, Novartis

  • Overcoming challenges to participant recruitment to rare disease research
  • How patient recruitment and recall into the Rare Diseases BioResource take place
  • Working with academia, industry and patient groups to facilitate rare disease research
  • Case studies from previous 15 years of rare disease research

Hannah Stark, Operations Lead, NIHR BioResource

  • Oligonucleotides allowing the targeting of a specific gene mRNA represents a promising and increasing class of recently approved genetic drugs.
  • The thee main strategies will be detailed: the antisense approach uses simple strand olidodeoxynucleotides and aims at either exon skipping or mRNA degradation; and the interfering RNA silencing strategie.
  • The different chemistries used for each strategy will be illustrated, as well as the pros and cons
  • Recent examples of therapeutic success and applications in clinical development phase will be displayed.

Pr Daniel Scherman, Head of Medicine, Life Sciences Division, European Academy of Sciences EURASC

  • Taking the example of lysosomal enzyme related diseases, I will present evidences on how a genetic,
    molecular and pathobiological understanding of rare and ultrarare diseases discovery and product
  • I will also bring evidences of how an organelles centric discovery can identify and lead to development of
    novel approaches for genetic defined neurodegenerative diseases and why patient centric associations and
    foundations (such as the Michael J. Fox Foundation in GBA1 Parkinson) support those research avenues

Manolo Bellotto, CSO & General Manager, Gain Therapeutics

  • 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

Hannah Stark, Operations Lead, NIHR BioResource
Anthony Hall, Chief Medical Officer, Healx
Manolo Bellotto, CSO & General Manager, Gain Therapeutics
Pedro Franco, Director for Global Regulatory & Scientific Policy (GRASP), Merck

Robert Mitchell-Thain, CEO, PBC Foundation

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