21st Orphan Drugs & Rare Diseases Global Congress 2024

Collaborations to Accelerate Rare Disease Drug Development and Access

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Orphan Drugs & Rare Diseases Global Congress 2024 Europe

The Fastest Growing Orphan Drugs & Rare Diseases Networking Event. 

Facilitate Live is proud to present our Orphan Drugs and Rare Diseases Global Congress 2024 Europe. It’s the 21st in the series of our Flagship tri-annual Orphan Drugs & Rare Diseases event. This congress will provide you with a comprehensive
overview of the critical issues shaping the future of Orphan Drugs.

The COVID-19 Pandemic has impacted the lives of just about everyone, patients receiving
continuous treatment and care included. The Rare Disease community is already
experiencing considerable challenges in achieving early and detailed diagnosis and having
access to care and life-saving treatment, to chronic, highly complex, progressive, and
severely disabling nature of their diseases, which generate specific care needs. Undoubtedly,
during this crisis, the rare diseases community is experiencing unprecedented overall disruption even more…

According to a report by Fortune Business Insights, the Global Orphan Drugs Market size
will emerge from the COVID-19 crisis at a moderate growth during the forecast period of
2020 to 2026. The global orphan drugs market size is projected to reach USD 340.84 billion
by the end of 2027. As stated, the market was worth USD 151.00 billion in 2019 and will
exhibit a CAGR of 10.5% during the forecast period, 2020-2027.

The current regulatory climate increasing the number of regulatory approvals, expanding numbers of successful clinical trials related to these drugs, tremendous investments in R & D, and the interest and existence of several large-scale manufacturers, will create opportunities and contribute exponentially to the overall market growth.

The two-day Congress will provide an interactive, cutting edge, and comprehensive discussion and networking format led by key experts with intimate knowledge in the industry. Gain practical strategies and best practices on challenges, innovations, technologies, and concepts surrounding orphan drugs and rare diseases.

We look forward to meeting you at the Congress!

Sincerely yours,

Jocelyn Raguindin
Conference Director
Facilitate Live



This congress is specially created for valued stakeholders in the Rare Disease community:

Network with Presidents, Heads/Chiefs, VPs, Directors, and Managers in the area of:

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Key Industry Expert Speakers

David Pearce

President of Innovation, Research, & World Clinic

Sanford Health

Eric Crombez, M.D.,

Chief Medical Officer, Gene Therapy and Inborn Errors of Metabolism


Pedro Franco

Director for Global Regulatory & Scientific Policy (GRASP)


Dr. Manolo Bellotto

CSO & General Manager

Gain Therapeutics

Kristin Smedley


Curing Retinal Blindness Foundation

Lara Bloom,

President and CEO

The Ehlers-Danlos Society

Rüdiger Schulze

VP & GM, Germany & Central/Eastern Europe


Robert Mitchell-Thain


PBC Foundation

Florence Barkats

Chief Commercial Officer


Hannah Stark

Operations Lead

NIHR BioResource

Christian Girard



Hannah Harvey

Senior Projects Officer

Beacon for Rare Diseases

Christine Von Raesfeld

Founder & CEO

People with Empathy, USA

Sheela Upadhyaya,

Chair Elect, Rare Disease Special Interest Group


Josie Godfrey

Co-Founder and CEO,

Realise Advocacy


Director, Patient Advocacy

Bionical Emas

Nick Sireau PhD

Chair and CEO

AKU Society


EVP Commercial

Bionical Emas

Robert Palmer

Head of Value & Access Oncology, APAC, MEA


Pr Daniel Scherman

Head of Medicine, Life Sciences Division

European Academy of Sciences EURASC

Anthony Hall

Chief Medical Officer


Bob Stevens

Group CEO

MPS Society

Dr Peter Lanyon

Rare Diseases Clinical Lead, National Disease Registration Service

NHS England

Nicola Gillott

Head of Expanded Access

Amryt Pharma


Content Rich Program Agenda!  Featuring Keynote Presentations, Stream Sessions, Panel, and Round Table Discussions.


  • 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

Josie Godfrey, Director, JG Zebra Consulting, Joint CEO, Realise Advocacy 


  • The National Disease Registration Service (NDRS, NHS England) collects patient data on cancer, congenital anomalies and rare diseases, and provides expert, timely analysis to support clinical teams, academics, charities and policy makers to help plan and improve treatments and healthcare in England.
  • The talk will illustrate how collaboration with NDRS can provide whole-population actionable insights into rare disease occurrence, treatment and outcomes.
  • This can inform health policy and deliver pioneering rare disease research

Peter Lanyon, Rare Diseases Clinical Lead, National Disease Registration Service, NHS England

  • International Collaboration and partnerships
  • Access to diagnostics
  • Access to treatments
  • Diverse populations
  • Future directions of RD research

David Pearce, President of Innovation, Research & World Clinic, Sanford Health

  • The key challenges for Rare Disease drug development and access
    what is the EU HTA
  • Description of EU HTA principles and timeline
  • A SWOT analysis of the situation
  • What has been done so far and what next

Sheela Upadhyaya, Chair Elect, Rare Disease Special Interest Group, ISPOR

  • Challenges for commercialization in small markets
  • Changes in the market access and regulatory environment
  • How to priorotize markets – and how not to
  • Success stories

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

  • The impact rare disease patient organisations can have on access decisions
  • Challenging conventional approaches to patient engagement in access
  • Planning for success

Josie Godfrey, Director, JG Zebra Consulting, Joint CEO, Realise Advocacy

  • Developing trend and obstacles faced by rare disease clinical trials
  • 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
  • Value of partnering with advocacy organizations to create innovative patient-driven solutions


Florence Barkats, Patient Advocate, NHCollab

Lara Bloom, President and CEO, The Ehlers-Danlos Society
Anthony Hall, Chief Medical Officer, Healx
Bob Stevens, Group CEO, MPS Society/Rare Disease Research Partners


  • The value of expert patients and why they should be paid
  • Case studies demonstrating the benefits patient groups can bring, and issues that arise when they are not
  • How industry can engage the patient voice and move from patient centricity to productive patient

Hannah Harvey, Senior Projects Officer, Beacon for Rare Diseases

  • Good partnership
  • Patient involvement
  • Using the App to collect patient data, where the data has been used, how it has helped to inform decisions
  • Examples of abstracts, and their outcomes

Robert Mitchell-Thain, CEO, PBC Foundation

  • Strategy
  • Team
  • Indications
  • Scouting
  • Funding
  • Walk the talk

Christian Girard, Co-founder, OrphaPedia

  • The origins of nitisinone as a herbicide
  • AKU as the iconic rare genetic disease
  • How a patient group, academics and industry worked together to develop nitisinone for AKU

  Nick Sireau, Chair & CEO, AKU Society

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

Josie Godfrey, Director, JG Zebra Consulting, Joint CEO, Realise Advocacy

Anthony Hall, Chief Medical Officer, Healx
Nick Sireau, Chair & CEO, AKU Society
Robert Mitchell-Thain, CEO, PBC Foundation

Josie Godfrey, Director, JG Zebra Consulting, Joint CEO, Realise Advocacy

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what people say

Thank you for a good experience with the PARADIGM Global Events… very high level, very good Organization, we overpassed our expectatives, we will be pending for another congress related to pharmaceutical and biotech… we learned a lot, and i think that the content of agenda was state of the art, thank you again.
Salvador Berrios
ERP/ CRM / Product Configurator Manager
The consistently high quality of international faculty was most impressive. It was also obvious that they were carefully chosen not only for their particular expertise but also for their ability to communicate the subject matter to clinical and non-clinical participants alike. As market access consultant for pharma clients of various sizes, I now feel much better prepared to explain the nuances & dynamics involved in bringing their products to market. In addition, I am in a much better position to intelligently advice my clients & help them set realistic expectations
Thomas Martin
Associate Vice President, VCGA - Quintiles
I was impressed with the organization of this event. I attend many conferences per year and find the organizers on site to be detached and not focus on good service to the delegates. This team was even providing weather forecast warning to ensure everyone was aware and made appropriate plans. Well Done.
Adriana E. Manzi
PhD, Managing Director, Atheln, Inc

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