Agenda at a Glance

Orphan Drugs & Rare Diseases - Conference Day 1

Day 1: Thursday - 17th February 2022

  • 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?

Moderator: TBC



  • Emily Crossey, Co-founder, Duchenne UK

  • What dynamic guideline recommendations will be put in the hands of the healthcare professionals?
  • Collaborations and partnerships with life science industries
  • Will rare disease patients have quicker access to new treatments and innovations?

  • Changes in regulations affecting the European market
  • R&D strategies to be implemented to accelerate market access for orphan drugs
  • Methods that orphan drug manufacturers can do to partner with governments
  • How can patient, governments, and orphan drug companies help support each other’s initiative to provide
    timely access to patients

Moderator: TBC


  • Keith White, Head, Global Market Access, Amylyx Pharmaceuticals 

  • Saira A. Jan, VP & Chief Pharmacy Officer, Horizon Blue Cross Blue Shield of New Jersey

While European regulatory agencies are adopting new pathways to embrace innovative therapies for
orphan diseases, it’s becoming increasingly clear that the reimbursement process and access pathways
haven’t caught up

  • Overview of challenges of recent orphan drugs from approval to market
  • Lessons learned
  • Considerations for biopharma companies looking to expand into this highly complex and nuanced

  • Doug Danison, Head of Europe, bluebird bio

  • 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.

  • How is this advanced therapy fundamentally changing the way rare diseases patients are treated.
  • Improving clinical development by new-age clinical trial design and recruitment.
  • An effective framework for developing the delivery system for the next generation of medicine.
  • Making manufacturing and commercialisation viable.
  • Unconventional payment models to ensure innovative treatment can be accessed by rare disease patients.

Moderator: TBC


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

Access & Collaboration

  • Introducing the Rare Disease Nurse Network
    (charity application in process), aiming to
    “become the Macmillan of Rare Disease”.
  • Overview of RDNN, aims, and objectives
  • Outline of our planned nurse service pilot
  • How people can help get involved

  • Helena Baker RGN, CEO, Rare Disease Nurse

  • 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
  • Early engagement to understand evidence
    needs reduces value uncertainty and facilitates
    a successful launch

  • Rhian Kiely, RWE Commercial Director, Europe,
    Open Health Evidence & Access

  • Why Patient-led collaboration for HTA?
  • The Project HERCULES approach to evidence
  • What next for collaboration for HTA

  • Emily Crossley, CEO, Duchenne UK,                       
  • Josie Godfrey, Policy Director, JG Zebra Consulting

Strategies for Implementing value-based pricing
and reimbursement for orphan drugs

  • Why does patient involvement matter in HTA
    and access?
  • What opportunities are there for patient
  • When is the right time for patient organisations
    to get involved in HTA and access?
  • How can patient organisations and patients be
    supported to ensure they can maximise their
  • How can the industry work with patent

  • Lindsay Birrell, Co-Founder & CEO, Realise
    Advocacy, Trustee, Medics 4 Rare Diseases

Discovery & Innovation

  • Building a consortium
  • Preparing the clinical development plan
  • Interacting with industry
  • Working with the regulators
  • Engaging with patients
  • Rolling out a successful set of clinical trials.

Nick Sireau, PhD, Chair and CEO, AKU Society

  • Introduction to Genethon pipeline in rare
  • Update on clinical programs
  • Next-generation gene therapy: focused on
    enhanced efficacy and improved manufacturing

Angela Columbano, Head Business Development &
Partnership, Genethon

  • Pediatric assent, informed consent, and shared
  • Immunogenicity and prospect of direct benefit
  • Impact on families and patient communities

Lesha D. Shah, MD, Medical Director, Icahn School
of Medicine, Mount Sinai

  • Patient impact through treatment development
  • Case studies of patient group involvement
  • Engaging the patient voice as an industry
  • The role of Findacure

Philippa Norman, Projects Coordinator, Findacure

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