Orphan Drugs & Rare Diseases Global Congress

23rd Orphan Drugs & Rare Diseases Global Congress 2025

Addressing the challenges in drug development, treatment availability, and access.

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Co-located with the 8th EXPANDED ACCESS PROGRAMMES WORLD Congress 2025 Europe

Orphan Drugs & Rare Diseases Global Congress 2025 Europe

Addressing the challenges in drug development, treatment availability, and access.

Introduction
Insight
Who Should Attend

FACILITATE LIVE is proud to present our Orphan Drugs and Rare Diseases Global Congress 2025 Europe. It’s the 23rd in the series of our Flagship Orphan Drugs & Rare Diseases events. This congress will provide you with a comprehensive overview of the critical issues shaping the future of Orphan Drugs.

An estimated 300 million people live with rare disease globally, an estimated 36 million in Europe. 80% of rare diseases have a genetic cause, almost 70% of which present in childhood. Collectively, people living with a rare disease represent one of the largest underserved patient communities in the world, with only 5% of known rare diseases having one or more approved treatments. The average time for an accurate diagnosis takes 4·8 years; and about 30% of children with a rare disease die before the age of 5 years. The complex biology and lack of understanding of the natural history of rare diseases makes drug, biologic, and device development in rare diseases very challenging. However, there is limited medical expertise and knowledge about rare diseases, and fewer than 1,000 diseases have even minimal scientific knowledge. Accurate diagnosis and treatment for these diseases has also been teeming with regulatory and logistical barriers. There is an urgent need for a regulatory framework that encourages safe therapeutic innovations and helps ensure their timely access to patients.

According to reports, the global Orphan Drugs Market size has reached a value of USD 214.8 Billion in 2023. looking forward, the market is projected to reach USD 541.3 Billion in 2032, at a CAGR of 1o.5% during the forecast period, 2024-2032. This growth has been driven by several factors such as increasing prevalence of rare diseases exhibited by the growing number of people affected by Rare diseases and rare cancer. Supportive government regulations and policies also helps to drive the market. Increasing R&D initiatives and investments by prominent players and patient advocacy involvement have resulted in major pharmaceutical breakthroughs. The development of blockbuster drugs for the treatment of several rare diseases and advances in genomics and personalised medicines 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

GAIN LATEST INSIGHTS ON:

Current Orphan Drugs landscape
Major drivers in the global rare disease market
Key developmental strategies carried out and Influencing factors that may affect market share to stand out in this industry
How is FDA managing orphan drugs during the pandemic?
Finding innovative and alternative ways in funding the development of Orphan Drugs
Patients perspective: what really matters to rare disease patients and caregivers?
Key authorities facilitating development and approval of diagnostic products/services
Coming Together in Developing Orphan Drugs and Crossing Borders
Trends and evolution of Advanced Therapy Medicinal Products
How Can the Developer and the Patient Assist in the Evolution and Development of Orphan Drugs to make it accessible to patients in a shorter period of time?
Strategies to improve Access and Affordability
What Do Developers Look for When Looking for an Outsourcing Partner?
What Do Insurance Companies Think About Orphan Drugs? Will They Make Modifications to Their Policies to Support Patients with Rare Diseases?
And much much more...

WHO SHOULD ATTEND?

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:

Clinical Research Organizations
Clinical Operations
Medical Affairs, Global Patient Advocacy & Alliances
Research and Development
Rare and Ultra-Rare Diseases
Cell and Gene Therapy
Regenerative Medicine
Government Policy and Advocacy
Digital Patient Experience Lead
Clinical Insights and Experience
Head of Strategy, Access Services
Vice President, Site Collaborations and Patient Centricity
Head of Neuroscience
Personalised Medicine
External R&D Innovation
Innovative Medicine
Translational Science
Molecular Geneticist
Program Management
Patient Advocacy Groups
Public Affairs
Medical Affairs
Regulatory Affairs
Market Access
Pricing and Reimbursement
Health Economics Outcomes Research
Commercial Development
Investments and Funding
Product Specialist
Global Strategic Services
Business Planning & Operations

Head of Patient Engagement
Patient Services
Engagement Strategy
R&D Patient Engagement
Medical Affairs
Regulatory Affairs and Policy
Patient Support and Patient Engagement
RWE, and Data Management
Quality and Compliance
Clinical Development
Programme Management
Supply Chain Management
Patient Access
Clinical Research
Global Head, Digital Accelerator
Patient Engagement & Portfolio Strategy
Patient Support Strategy & Insights
Patient Experience
Clinical Research Organizations
Research and Development
Personalised Medicine
Pharmacies
Academia
And much much more..

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Schedule

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

Day 1 19/03/2025
Day 2 20/03/2025

Auditorium 1

8:00 am - Conference Registration and Welcome Coffee

8:30 am - Chairpersons Welcome and Opening Remarks

LANDSCAPE OVERVIEW & CURRENT TRENDS

8:40 am - OPENING KEYNOTE PANEL: Progressing Rare disease diagnosis, care and treatment to improve health outcomes for patients with rare diseases

Addressing the potential gap in the framework and policy recommendations which support the broad range of people experiencing rare conditions.
Strategies for more efficient ways of utilising data for earlier detection and diagnosis of rare diseases
Ensuring equity in access to specialised care and innovative treatments.
Improving the delivery of clinical research and communication

Moderator:

Panellists:

Stefano Benvenuti, Head of Public Affairs and Market Access, Fondazione Telethon

9:20 am - OPENING KEYNOTE: Update on England's Rare Diseases Action Plan

Progress update on the actions set out in previous plans
New actions included in the Rare Disease Action Plan for England from 2024
Ensuring the plan delivers for people affected by rare conditions

9:45 am - KEYNOTE SESSION: Reflections on the EU’s future rare disease policy environment

Reflections on a Rare Disease Action Plan and a coordinated legislative framework
How a new EU legislative framework defined by the upcoming review of the General Pharmaceutical Legislation, anticipated Biotechnology Act, and life science strategy shape the OMP landscape
Initial reflections on the EU HTA Regulation and its implications on the OMP and ATMPs will impact the OMP landscape

Alexander Natz, Secretary General, EUCOPE

10:10 am - PLENARY:SESSION: The DACMAR Advantage: This approach helps biotech companies position themselves for potential acquisition or public offering, with a focus on creating sustainable impact and preparing for long-term success

Disrupt encourages groundbreaking solutions that fill unmet medical needs.
Adopt focuses on strategies to ensure market acceptance through regulatory approvals and commercialization.
Collaborate highlights building partnerships across academia, industry, and regulators.
Manage emphasizes effective leadership and risk management.
Adapt stresses flexibility in dynamic regulatory and market environments.
Resource centers on optimizing financial, human, and technological resources.

Dr James Levine, President, Fondation Ipsen

10:35 am - Morning Networking & Refreshments

11:15 am - PLENARY SESSION: Commercialisation of Orphan Drugs: Top issues facing the community today

Innovative changes that will impact the rare disease community
Stakeholders collaboration to continue fulfilling unmet needs
What R&D strategies can be implemented to accelerate the market access for orphan drugs?
Challenges in bringing orphan drugs to patients after approval

11:45 am - SPONSORED SPOTLIGHT: Navigating the complexity of Rare Diseases Clinical Trials

Practical challenges in conducting orphan drug clinical trials
Technical aspects of clinical trial design for rare diseases
Analytical and statistical considerations for clinical trial designs
Recommendations for improving the clinical trial design of rare diseases

12:15 pm - SPONSORED SPOTLIGHT: Answering the million dollar question: Who really owns the data?

The idea for this presentation is to explain about data ownership and how Pulse addresses this through our agreements etc.
We could look at exploring how this has become a hot topic, why, and why industry and patients needs to be aware of the complexity of the subject.

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

12:45 pm - PLENARY SESSION: Early access to Orphan Drugs in Europe

Terminology
Different pathways and their pros and cons
Specific regulations in several European countries

Dr. Rüdiger Schulze, Vice President and General Manager, DACH, Ultragenyx

1:15 pm - Networking Lunch Break

RESEARCH & DEVELOPMENT

2:15 pm - PLENARY SESSION: Preclinical development of gene therapy products for muscular dystrophies.

Muscular dystrophy as paradigm for orphan drug development
Most promising gene therapies strategies for the treatment of muscular dystrophy
Future perspectives; orphan drugs in the pipeline

Alberto Malerba, Gene Medicine Laboratory for Rare Diseases, Royal Holloway, University of London

2:40 pm - PLENARY SESSION: VCN-01 oncolytic adenovirus development in pediatric retinoblastoma

VCN-01 oncolytic virus design
Ph1 clinical data results
Hurdles encountered during development of a new product in retinoblastoma

Manel Cascalló, General Director EU Subsidiary & Founder, Theriva Biologics

3:05 pm - PLENARY SESSION: Scientific journey from coal to diamond: myths and misperceptions in rare disease innovation

How do we put a true value on innovation in rare disease medicines development?

Jennifer Schranz, SVP, Global Head of Rare Diseases, Ipsen

3:30 pm - Afternoon Networking Break

4:10 pm - PLENARY SESSION: Mesenchymal stem cells as a potential treatment for osteogenesis imperfecta

The unmet need in OI
Rationale for using mesenchymal stem cells
Challenges of drug development for OI, particularly in very young children

Anthony Hall, Co-Founder, Member of Board & Scientific Advisor, Beacon for Rare Diseases

4:35 pm - PLENARY SESSION: Drug repositioning in overgrowth syndrome and vascular malformations

How to accelerate drug repositioning?
Preclinical models and drug testing
Fast-tracked drug access for patients

Prof Guillaume Canaud, Translational Medicine and Targeted Therapies Unit, Necker Enfants Malades

5:00 pm - PLENARY SESSION: Promises and Pitfalls of using Real World Data and Evidence (RWD/E) in Orphan Drug Development.**

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

5:25 pm - PANEL DISCUSSION: Rare Disease Research: Its Importance for Orphan-Drug Development Success

Remarkable advancements in rare disease research
Addressing obstacles in development of new treatments and access to trials
Significant challenges faced by orphan drug developer
Key initiatives that can guide collaborative approaches and innovative strategies to accelerate progress in the rare-disease field.
Drug repurposing for rare disease

6:05 pm - Chairperson's Closing Remarks

Auditorium 1

8:00 am - Conference Registration and Welcome Coffee

8:30 am - Chairpersons Welcome and Opening Remarks

Stacey Minton, SVP, Head of Corporate Affairs, Kyowa Kirin International

ACCESS & COLLABORATION

8:40 am - KEYNOTE PANEL: Rare Diseases and Orphan Drugs: The importance of Patient engagement strategies to overcome challenges in Orphan Drug Development

Demonstrating the unique challenges of developing a drug for rare diseases.
Ways that patients can be involved in designing patient-centered clinical trials
Challenges to patient engagement in rare disease research such as operational considerations
With focus on the need for collaboration in this space

Moderator:

Panellist:

Dr Pooja Takhar, Joint Chief Executive, Tuberous Sclerosis Association

9:20 am - PLENARY SESSION: Reframing the patient in an age of precision medicine

Define precision medicine and highlight current developments
Present an overview of disease populations and sub-populations – both generally and from a regulatory perspective
Present case study of Tofersen and MND which highlights impact of appropriate sub-population identification
Talk about the policy ask for disease subpopulations
Draw more general conclusions with regard to precision medicine and patients

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

9:45 am - PLENARY SESSION: Defining rare in the era of personalised medicine

There is currently no global agreement on the impact and widespread application of advances in molecular sciences and pathology on the definition of a rare condition
Defining rare conditions in the era of personalized medicine includes subsetting of common conditions, sub- setting of rare conditions, individualized treatment options and shared molecular entity conditions.
A broader consensus view of what rare means will help maximize the impact of technological advances in therapeutic development programmes

Daniel O’Connor, Director, Regulatory Policy and Early Access, ABPI

10:10 am - PLENARY SESSION: Rare diseases – not just the “what” but the “who”

Rare Disease Epidemiology
Brief history of Rare Disease recognition
A brief review of the development of Genomics
The role, importance and benefits of Rare Disease surveillance

Dr Peter Davis, Chair, BPSU, Scientific Committee, Bristol Royal Hospital for Children

10:35 am - Morning Networking & Refreshments

11:00 am - PLENARY SESSION: Challenges and opportunities for mRNA therapy for rare genetic diseases

Innovative application of mRNA therapy for treating Alkaptonuria (AKU)
He will discuss the challenges and successes in doing so in pre-clinical models and plans for the future
Broader implications of mRNA therapy in the context of rare diseases, expanding the research beyond AKU to include other conditions like Phenylketonuria and Hereditary Tyrosinemia Type 1
The presentation aims to engage stakeholders in understanding the potential of mRNA therapeutics to transform treatment paradigms for rare genetic diseases.

Nick Sireau, CEO and Chair of Trustees, AKU Society

11:25 am - SPONSORED SPOTLIGHT: Critical role of patient organisations in the development of new therapies

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.

12:30 pm - PLENARY SESSION: How to engage every community and empower patients to participate in clinical research.

The number one reason patients don’t participate in clinical trials is because of the burden of travel. We can solve that problem.
Patient advocates spend too much time away from their family to fundraise. We can solve that problem.

Luke Rosen, CEO of Rescue7: Firefighters for Patients

1:00 pm - Networking Lunch Break

ACCESS & COLLABORATION

2:00 pm - PLENARY SESSION: The WHO resolution on social participation in health and well-being and what its implementation could mean for patients, society and health systems

This session will examine how we can all leverage this resolution with and within our health systems to make the patient voice count more, count better, and count more sustainably.

Amanda Bok, Chief Strategy Officer, The Synergist

2:25 pm - PLENARY SESSION: Global Rare disease groups collaborate for a parent led observational study

Bullet points to follow

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

2:50 pm - PLENARY SESSION: Importance of Patient Advocacy for Clinical Research

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

3:15 pm - PLENARY SESSION: Awareness, Accessibility and Access: the reality of treating rare disease

To follow shortly

Dr Lucy McKay, Chief Executive Officer, Medics4RareDiseases

3:40 pm - Afternoon Networking Break

4:00 pm - PANEL DISCUSSION: Optimizing pricing and access to rare disease drugs

Aligning with payers and health policymakers around the rare disease policy agenda.
Leveraging advanced data analytics to support clinical evidence
Fully engaging patient and caregiver communities
Creating innovative approaches to funding and contracting
Sustainable model addressing both affordability and access

Moderator:

Francis Pang, SVP, Global Market Access and Geographic Expansion, Orchard Therapeutics

Panellists:

Stefano Benvenuti, Head of Public Affairs and Market Access, Fondazione Telethon

4:40 pm - CLOSING PANEL DISCUSION: Global collaborations and innovations shaping the future of Rare disease treatment

Strengthening health systems around the world and accelerating pathways to diagnosis including EU- sponsored international initiatives
How can the work from the public and private sector help in accelerating research and raise awareness in rare diseases?
How innovation, research and investments are key to accelerate the development of treatments?
How the next Commission and Parliament can support the future of rare disease treatment?
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.

Moderator:

Panellists:

Matt Johnson, Mental Health Lead & Healthcare Advisor, EURORDIS
Dante Di Iulio, Public Affairs Lead, Europe & International, RARE, Chiesi

5:20 pm - Session Chair's Closing Remarks

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Testimonials

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.