7th - 9th March 2018

• State of art of disease specific registries in Europe
• Active data collections versus passive ones: what use for patients’ health records
• Opportunities from Big data: the European open research space
• Impact of the EC directive on personal data protection
• Implementation of the FAIR principles (Findable, Accessible, Interoperable, Reusable)


Dr. Ségolène Aymé, Emeritus Director, INSERM, Expert in residence for rare diseases at the Brain and Spine Institute in Paris, Founder and Editor-in- Chief, Orphanet Journal of Rare Diseases

  • Advantages of alternative financial funding on orphan drugs development
  • Portfolio financing and why is it well suited for orphan drugs?
  • What other alternative ways to raise funds and finance for orphan drugs are available?

Christian Girard, Chief Editor, Orphan Drugs Industry Insider

  • Why should drug repurposing be considered a viable strategy for rare diseases?
  • The current extend of repurposing in this space.
  • Examples of collaborative models to drive generic drug repurposing in rare diseases.
  • Developing a socially financed model to fund generic drug repurposing.

Dr. Rick Thompson, CEO, Findacure

• How fast can we be to have clinical proof of concept
• Is there room for developing small molecules in orphan diseases
• How does a clinical development plan match with an extended access program


Raúl Insa, MD, PhD, MBA, Founder, President and CEO, SOM Biotech

Selected highlights from the EU-funded projects Ideal, Asterix, and Inspire
o Clustering of rare diseases to improve guidance on adequate statistical approaches
o Alternative justifications for sample sizes
o Gain attainment scale as a quantitative clinical endpoint for diverse experiences
Case studies of successful implementation of adaptive trials for rare disease indications
Ursula Garczarek, Associate Director of Strategic Consulting, Cytel

  • What contribution have the big pharma companies to guarantee growing development of orphan drugs?
  • Manufacturers collaboration with governments, payers and patients to continue fulfilling unmet needs?
  • How are small biotech start-ups contributing to the orphan drugs market?
  • How can developers demonstrate value for orphan drugs?
  • What is left to be done to increase growth in shortest possible time?


Moderator: Sjef De Kimpe, PhD, MBA, CSO and SVP, R&D, Auxesia Orion

Fred Derosier, D.O.,Executive Director, Covance Rare Diseases and Orphan Drugs
Raúl Insa, MD, PhD, MBA, Founder, President and CEO, SOM Biotech
Dinesh Mistry, Executive Strategist/Global Regulatory Affairs, Covance
Dr. Rick Thompson, CEO, Findacure

  • Regional specifics for orphan drug development and approval
  • Successfullly aligning input from regulatory authorities
  • Maximising utility of expedited development programs
  • Evolution in regulatory review flexibility

Mike Page, Executive Director, Global Regulatory Affairs Portfolio Products, Alexion Pharmaceutical

Description of the current UK environment with respect to RDs
Description of the key challenges
Short tour through some of the collaborative approaches ongoing to address these key challenges to allow patients access to innovative new therapies

Matthew Lumley, Rare Disease Medical Director, Pfizer UK

The Orphan Drug Regulation failed to promote the development of innovative therapies for children and adolescents with cancer.
Only two orphan medicines approved for the treatment of malignancies occurring specifically in children over 16 years.
Two-third of orphan medicines approved for a cancer occurring in adults and children do not have any pediatric information.
The EU regulatory environment needs to be significantly improved to accelerate innovation for children and adolescents dying of cancer
Dr. Gilles Vassal, President, European Society for Paediatric Oncology
The role of the industry in orphan diseases - a look at Pulmonary Arterial Hypertension (PAH)
Role of the industry in developing a disease
How to align stakeholder engagement
Success factors for a collaboration across stakeholders
Otto Schwarz, former COO, Actelion Pharmaceutical Ltd.
What is orphanization process and how it will enhance development of orphan drugs
How are stakeholders collaborate to make orphan drugs readily available to patient
Stakeholder cooperation to overcome challenges in orphan medicine development
What can stakeholder do to make orphan drugs more affordable to patients
Ken Kengatharan, CEO, Auxesia Orion and Managing Partner, Atheneos Ventures

  • How can manufacturers work with regulators in understanding regulatory issues and challenges to minimise risks during development?
  • How should the R&D and commercial leaders in pharma anticipate and sort out the public policy risks and benefits of adopting an orphan drug development and commercialization strategy?
  • The future of approving drugs thru orphan drugs designation pathway particularly in near and long-term changes that are coming in the future with respect to orphan drugs approval process

Ségolène Aymé, Emeritus Director of Research, INSERM, Founder, Orphanet

Mike Page, Executive Director, Global Regulatory Affairs Portfolio Products, Alexion Pharmaceutical
Gilles Vassal, President, European Society for Paediatric Oncology
Otto Schwarz, former COO, Actelion Pharmaceutical Ltd.

Dr. Eduardo García-Toledano MD, PhD, MBA, Msc, MBA Global Health Ethic Law. VP /General Counsel, World Rare Disorders Foundation & Childhood Cancer Foundation
• What patients can bring to a clinical development programme
• How to involve patients successfully
• How to set up an international consortium with patients, industry and academia.
• The Black Bone Disease experience: challenges and opportunities.

Dr. Nicolas Sireau, Chair, AKU Society

Understanding the patient journey in rare diseases is critical to successful clinical development
Without insight into real-life diagnostic barriers communicating new data may not be suffi cient to drive changes in clinical practice
Innovative communication strategies, patient journey insights and behavioural science techniques can all contribute to improved patient out-comes
Jane Blyth, Scientific Director, Complete HealthVizion
Russell Broome, Account Director, Complete HealthVizion
• Selected regulatory aspects for cell and gene therapy medicinal products in Europe
• Potential Reimbursement models for cell and gene therapies
• Delivering Cell and Gene therapy to patients
• An outlook…Cell and Gene therapies in the pipeline


Dr. Michael Zaiac, Head of Medical Affairs Haematology/Oncology, EMEA, Celgene

  • The Challenge for a Patient Association to play a role in the Development of Medicinal Products.
  • Creation of Integrated R&D Structures for Gene and cell Therapies in Orphan Diseases.
  • Business Perspective: The Role of Patient Organization in Drug Development.

Dr. Didier Caizergues, Head of Regulatory Affairs Department, GENETHON

• What are the outcome measures and researches supporting clinical development?
• How does market landscape factor into early drug development?
• Latest strategies to guarantee a successful drug development
• Is there a major role for repurposing of old drugs for new uses in orphan and rare disease space?


Farzana Malik, Partner, Cogience
Fred Derosier, D.O.,Executive Director, Covance Rare Diseases and Orphan Drugs
Ursula Garczarek, Associate Director of Strategic Consulting, Cytel
Dr. Nicolas Sireau, Chair, AKU Society
Dinesh Mistry, Executive Strategist/Global Regulatory Affairs, Covance

Background to muscular dystrophy
Specialised commissioning: context
Emerging drugs & treatments

Robert Meadowcroft, Chief Executive, Muscular Dystrophy UK

  • Ranking of unmet medical needs for a novel Belgian early treatment access and early treatment reimbursement program proved to be very helpful.
  • A multi-criteria decision approach making use of findings from a citizen panel helped in listing diseases and indications guiding pharmaceutical industry.
  • A supply driven system ideally needs to move towards a system driven by patients and societal needs
  • First experience revealed some issues but also many opportunities and will be discussed.

Irena, Cleemput, Senior Health Economist, KCE - Belgian Health Care Knowledge Centre

Because of the global healthcare spend increase healthcare payors and governments continue to face enormous cost and capacity challenges.
There is a clear requirement for RWE to guide funding decisions and support reimbursement and market access negotiations.
This presentation will focus on current RWE trends in regulatory landscape, access to the data, increased patient voice and how to include more RWE data within drug development process.
Maryna Kolochavina, Project Director, Real World & Late Phase, Syneos Health
Patient’s access to treatment as the main purpose of orphan drug research and development
Reduce unnecessary costs in clinical development of orphan drugs
Anticipate risks in ODs clinical development and reduce time to approval
Integrate the key variables to increase the success of P&R step
Dr. Carlos R. Camozzi, Orphan Drugs Development and Rare Diseases Expert

  • In 2010, a European Union (EU)-level initiative, ‘Process on Corporate Responsibility in the field of Pharmaceuticals’
    was launched. This initiative included the MoCA project, a ‘mechanism for European countries to collaborate on
    coordinated access to Orphan Medicinal Products (OMPs) in a voluntary, dialogue-based approach. The Medicines
    Evaluation Committee of the European Social Insurance Platform (MEDEV) initiated pilot MoCA projects in July 2013.
  • MoCA pilots have thus far consisted of a series of multi-country level discussions between companies and payer bodies
    around evidence development and reimbursement schemes. In addition, as part of the early activities of the MoCA
    project, the 12 participating EU states drafted a Transparent Value Framework (TVF) to provide a possible structure for
    national pricing and reimbursement/HTA decisions
  • The objective of the panel session will be to present and discuss the MoCA initiative from different perspectives. Key
    stakeholders who have thus far participated in MoCa pilots will provide their insights and recommendations on the
    current process, possible applications and development of the TVF, and recommendations for future applications.

Martina Garau, Principal Economist, The Office of Health Economics
Robin P. Thompson, Director, EU+ Value and Market Access, Biogen
Anna Bucsics, Project Advisor, Mechanism of Coordinated Access to orphan medicinal products (MoCA)
Simone Boselli, Director of Public Affairs, Eurordis

• Introduction to the session
o Scene setting – snapshot of recent developments in the UK
• An industry view
o Current developments beyond the UK and industry reactions
• Patient perspective
• A broader view (possibly Hanover speaker - to be confirmed
o Wider view from European perspective – concerns, opportunities, what matters, what doesn’t

Moderator: Josie Godfrey, Director, JG Zebra Consulting, Former Associate Director of HST, NICE
Leslie Galloway, Chairman, EMIG
Francis Pang, VP of Global Market Access, Amicus
Thomas Cawston, Head of Healthcare Policy, Hanover
Dr. Nicolas Sireau, Chair, AKU Society