Home » Agenda » Day 1

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


  • Impact of new innovations to patients and caregivers
  • What difference do these recent innovations have made to their lives?
  • What must be done to accelerate innovations and broaden access at the same time?
  • What challenges still remain to increased equity for people living with a rare disease and their families?
  • 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

  • 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
  • Perspective of when, and how to engage patients, advocacy organizations and caregivers
  • Benefits of early and consistent engagement on recruitment, retention, regulatory and access issues.
  • Ways patients and patient representatives can be involved in fundamental and translational research into
    their disease.
  • Success factors toward building a good multi-stakeholder network
  • How to maximize the positive impact of patients and advocates on research.


  • 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


  • How are this advance therapy fundamentally changing the way rare diseases patients are treated?
  • Improving clinical development by new age clinical trial design and recruitment
  • Effective framework for developing the delivery system for the next generation of medicine.
  • Making manufacturing and commercialization viable
  • Gene therapies in the pipeline


Eric Crombez, Chief Medical Officer, Gene Therapy and Inborn Errors of Metabolism, Ultragenyx

  • Choosing the correct design for your trail
  • Ensuring the right tools and infrastructure for sites and patients
  • Case study examples with learning points to take away


  • 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

  • Recognising key areas to ensure patients’ experiences, perspectives, needs, and priorities are captured and
    meaningfully incorporated into drug development and evaluation.
  • Patient’s input to improve quality, relevance, safety and efficacy of drug development
  • The role of respective stakeholders and the way they interact, from the early steps of drug development to
    access in real life?

Adrien Lemoine, Co-Founder & CEO, Bloomsbury Genetic Therapies

  • 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

Scroll to Top