21st Orphan Drugs & Rare Diseases Global Congress 2024

Innovative programmes to optimize access in a global healthcare market

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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

Anne-Sophie Chalandon

Head of Global Rare Diseases and CGT Policy


Pedro Franco

Director for Global Regulatory & Scientific Policy (GRASP)


Amanda Bok

Chief Strategy Officer

The Synergist

Owen Marks

Principal, OMGEN, Head of Rare Diseases and Diversity and Inclusion Co-Chair


Manuela Maronati

Head of Rare Disease Europe


Rüdiger Schulze

VP & GM, Germany & Central/Eastern Europe


Nicholas Brooke

Founder & Executive Director


Arti Patel

Genomics Associate, Great Ormond Street Hospital

Trustee, Treacher Collins

Alexander Natz

Secretary General


Nigel Nicholls

General Manager UK/Nordics & Baltics

Egetis Therapeutics AB

Julie Powell

Director, Patient Advocacy and Public Affairs

Pleco Therapeutics

Kerry Leeson-Beevers

Chief Executive

Alström Syndrome UK

Sheela Upadhyaya,

Chair Elect, Rare Disease Special Interest Group


Dr. Femida Gwadry-Sridhar

Founder and CEO

Pulse infoframe Inc.

Nick Sireau

Chair & CEO

AKU Society

Dr Usman Khan


Motor Neurone Disease (MND) Association

Bob Stevens

Group CEO

MPS Society

Melanie Dixon



Dr. Ron Jortner


Aspire Biosciences

Carole Scrafton

Director & Co-Founder,

Flutters and Strutters

Rohan Simon

Associate Director - Business Development

Insights Research Organization & Solutions


Chief Medical Officer


Joshua Card-Gowers

Senior Evidence Lead


Lindsay Randall

Founder, CEO, Mother

Arthur’s Quest

Dr. Harriet Holme

Chair and Founder


Nick Sireau PhD

Chair and CEO

AKU Society

Hazel Dawson

Market Access Director UK & Ireland

Alexion Pharma UK

Surabhi Verma

Chief Medical Officer

Leadiant Biosciences

Juliet Hulse

Head of Clinical Operations

Pulse infoframe Inc.

Dan Lewi

Head of Business Development and Patient Advocacy

Pulse infoframe Inc., Co- founder, CATS Foundation


Executive Vice President – Medicines Access

Smartway Pharma


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


  • Scene setting on rare disease – definitions and unmet need
  • Progress in last decades – melting the iceberg of need?
  • Introducing the Health Equity agenda in life sciences
  • Evolution of Health Equity space – patient representation, expert patients, patient organisations, engagement platforms, differentiation, and articulation within the protected characteristic space
  • Health Equity and Rare Disease – aspects of a Ven diagram?
  • Thought/discussion points for conference.

Dr Usman Khan, Chair, Motor Neurone Disease (MND) Association

  • The total burden of rare disease, which affects not only patients, but their caregivers, family members, and society as a whole.
  • Addressing major logistical and regulatory issues due to minimal clinical research centers and sufficient expertise.
  • Special consideration and flexibility to ensure that vulnerable patients with rare diseases have a sustained pathway to access
  • What challenges still remain to increased equity for people living with a rare disease and their families?


Dr. Femida Gwadry-Sridhar, Founder and CEO, Pulse infoframe Inc.


David Pearce, President, Innovation & Research, Sanford Health

Melanie Dixon, Trustee, Cure DHDDS
Carole Scrafton, Director & Co-Founder, Flutters and Strutters

Dr Usman Khan, Chair, Motor Neurone Disease (MND) Association

Dan Lewi, Head of Business Development and Patient Advocacy , Pulse infoframe Inc.

  • Beyond Data and Strategic HTA Submission Tactics
  • Harnessing Community Insights for Better Launch Planning
  • Developing Sustainable Go-to-Market Approaches for Orphan Medicines
  • Building an Ecosystem of Collaboration to Drive Health-System Change

Owen Marks, Head of Rare Diseases and Diversity and Inclusion Co-Chair, Pfizer

  • The European Parliament is currently reviewing the Pharmaceutical Package, which will potentially be voted on in April – this new text will outline the incentive and regulatory ecosystem for OMP developers. This will be a major milestone in the legislative review.
  • The outcomes of these discussions will shape the landscape for OMP developers in the EU for the next 20 years.
  • Reflect on the changes taking place outside the scope of the legislative framework, including the role of PPP and ERNs

Alexander Natz, Secretary General, EUCOPE

  • Understanding the necessity of partnering with the patient community from the start
  • Elevating the patient voice – the UCB experience in gMG
  • The role of real-life experience in changing the treatment paradigm
  • Innovation approaches in evaluating new medicines for rare diseases
  • The importance of building rare capabilities within a company to support launch

Manuela Maronati, Head of Europe, Rare Disease Organization, UCB

  • This presentation will focus on the role of RWD in natural history and patient registries.
  • How data can be utilized to help inform study design
  • The use of RWD as an external control and to find eligible patients for trials
  • Using RWD with prior clinical trial data to better understand patient outcomes.

Dr. Femida Gwadry-Sridhar, Founder and CEO, Pulse infoframe Inc.


  • The role that patient networks can play in improving diagnosis, clinical trial recruitment and retention.
  • The need to stop thinking of communities as being ‘hard to reach’ and appreciate that some services are ‘hard to access’.
  • Overcoming barriers and striving for equity.
  • Allowing ourselves to be vulnerable and reflecting on our own practices and organisational culture.
  • Developing inclusive and accessible services and support.
  • Including the voices of people who often go unheard – involving and engaging with people from diverse and marginalised communities.
  • Learning from people with lived experience.

Kerry Leeson-Beevers, Chief Executive, Alström Syndrome UK

  • How to collaborate with academic, industry, and patient advocate stakeholders
  • Hot topics in rare diseases
  • Future of therapeutic development for rare diseases

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

  • Determining accurate patient population estimates for rare diseases is critical at all stages of drug development, from R&D through to securing orphan drug status and commercialisation.
  • Standard methods pose significant limitations due to the paucity of data, which presents risks to decision-making processes.
  • The availability of genetic databases has enabled a new “bottom-up” approach to establishing accurate data on patient populations, and mitigating such risks.
  • This presentation will discuss these new methods and how they are being applied.

Joshua Card-Gowers, Senior Evidence Lead, HealthLumen

  • Receiving a diagnosis – the start of our journey.
  • Reaching out to the scientific community and searching for patients.
  • Planning our strategy in how best to tackle this ultra rare disease.
  • Problems encountered along the way.
  • Our hopes for the future.

Melanie Dixon, Trustee, Cure DHDDS

The AKU Society successfully led the 10 year development programme of the drug nitisinone for the ultra rare genetic disease Alkaptonuria (AKU, or Black Bone Disease). But we are now learning that the disease is even more serious than originally thought and that limiting the drug’s side effects requires a strict low protein diet.
That’s why the AKU Society has launched its own drug discovery and development programme that it is funding at the University of Liverpool in order to develop new drugs that will resolve these issues. Find out at our talk what challenges face patient groups carrying out their own drug discovery programme and how to overcome these.

Nick Sireau, PhD, Chair and CEO, AKU Society

  • 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


David Pearce, President, Innovation & Research, Sanford Health

Anthony Hall, Chief Medical Officer, Healx

Nick Sireau, PhD, Chair and CEO, AKU Society

Dr. Harriet Holme, Chair and Founder, PCDResearch.org

Surabhi Verma, Chief Medical Officer, Leadiant Biosciences

Dr. Femida Gwadry-Sridhar, Founder and CEO, Pulse infoframe Inc.   

Sheela Upadhyaya – Life Sciences Consultant – specialising in Rare Disease


  • How are public private partnerships advancing?
  • How could they add value? the power of PPP
  • How the futures PPP looks like? What is really exciting?
  • Conclusion, look to the future

Anne-Sophie Chalandon, Head of Global Public Affairs, Rare Diseases & CGT Policy, Specialty Care,

Sheela Upadhyaya – Life Sciences Consultant – specialising in Rare Disease

  • The difference between real world data and real world evidence
  • The utility of RWE within a drug development pathway
  • RWE frameworks across the world
  • Use of RWE in HTA

Sheela Upadhyaya – Life Sciences Consultant – specialising in Rare Disease 

  • This session reports on the collective vision and efforts of global patient leaders towards
    empowering and enabling the patient movement to ‘level’ and ‘leverage’ up towards delivering its
    full potential for the benefit of patients, health systems, and society

Amanda Bok, Chief Strategy Officer, The Synergist

  • Role of RWD/E in orphan disease drug development
  • Pitfalls in the use of RWD/E in orphan drug development
  • Repurposing and RWD/E

Surabhi Verma, Chief Medical Officer, Leadiant Biosciences

  • Establishing Trust and partnership
  • Using 3rd party agencies as a networking, capacity and bridge building partners
  • Building joint successful advocacy campaigns
  • Exploring ethical issues and barriers in joint working
  • What does best practice look like now and in the future.

Nigel Nicholls, General Manager UK/Nordics & Baltics, Egetis Therapeutics AB

  • Introduction of a novel methodology to tilt the cost-benefit function of rare disease treatment development
  • Leveraging both human and machine intelligence to identify treatment opportunities and build collaborative teams around relevant assets
  • Case study and preliminary outcomes from our Rare Neurology cohorts will be presented

Dr. Ron Jortner, Founder/CEO, Aspire Biosciences

  • Today’s Rare Disease Landscape
  • Challenges & Opportunities
  • The importance of patient networks and incorporating diverse patient voice in diagnosis and clinical trial recruitment
  • Patients before Profits – How to improve the clinical trial experience for patients and retention for sponsors
  • The Importance of Early Access
  • Understanding end points and emerging science
  • Collaboration, Collaboration, Collaboration !!!

Bob Stevens, Group CEO, MPS Society

  • Why is patient advocacy beneficial to research?
  • Understanding of elements contributing to meaningful ways of involving patients in research
  • Advantages of involving patients early in research
  • What else needs to be done?

Carole Scrafton, Director & Co-Founder, Flutters and Strutters

  • In rare disease, patients look ‘upstream’ with hope for development of new treatments and access to trials and ’downstream’ for better, faster diagnoses and access to treatments. No other disease category faces the same sorts of challenges all along the continuum. Recent market conditions have halted development of a number of promising potential therapies, and new policies, coverage decisions, financial pressures and other factors have generated additional gaps, delays and difficulties in access to newly approved medicines.
  • New approaches that are emerging from discovery to treatment in response to these challenges.


Dr. Ron Jortner, Founder/CEO, Aspire Biosciences


Julie Powell, Director, Patient Advocacy and Public Affairs, Pleco Therapeutics

Lindsay Randall, Founder, CEO, Mother, Arthur’s Quest

Hazel Dawson, Market Access Director, UK & Ireland, Alexion Pharma

Robert Donnell, EVP, Medicines Access, Smartway Pharma

  • 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.


Dr. Femida Gwadry-Sridhar, Founder and CEO, Pulse infoframe Inc.

Anthony Hall, Chief Medical Officer, Healx

Juliet Hulse, Head of Clinical Operations, Pulse infoframe Inc.

Surabhi Verma, Chief Medical Officer, Leadiant Biosciences

Carole Scrafton, Director & Co-Founder, Flutters and Strutters

Dr. Ron Jortner, Founder/CEO, Aspire Biosciences

Sheela Upadhyaya – Life Sciences Consultant – specialising in Rare Disease 

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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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