Day 2 Congress

Strategies in patient recruitment and retention for a successful clinical trial in rare diseases
How can you prepare healthcare providers to know about the therapy and identify the right patients for your therapy?
How can developers make research goals and use of data to be transparent and to be informed about progress or roadblocks in order to build a relationship based on trust with patients?
What enhanced ongoing patient support beyond the clinic can be provided to encourage positive relationships between patients and healthcare providers?
What Are the factors and steps to be taken to ensure success of the drug development?

Tijana Bugarcic, Managing Director, Rarebase, Evaluator, New Therapies for Rare Diseases, European Commission

  • New ideas, new paradigms, new levels for discussion are needed to foster technological and medical progress in the area of rare diseases and orphan drugs development in Central and Eastern European countries due to healthcare systems resistance to rare diseases;
  • “PATIENTS’ SCIENTFIC INSTITUTE” creates new quality and opportunities in entire area of rare diseases and orphan drugs development. It’s created by patients and for patients. It’s also created by young scientists, students of medical and life sciences and experienced researchers. PSI is a think-thank, functioning on non-profit basis, focused on R&D in rare diseases and providing such research directly to patients.
  • We believe that for rare disease patients access to possible treatments = access to research, including clinical trials designed according to new paradigms with strong patient involvement from the early stage of studies;
  • No political activities, no-policy-making;
  • Involvement of local biotechnological SMEs as well as big pharmaceutical companies;
  • Disease-focused working groups within PIN working on patient/disease registries, codes of conduct; PIN is governed by patients and patient-centred, patient-focused initiative.

Rafal Swierzewski, President of Board, Fundation for Patients with Rare Diseases COCARDA

  • Muscular dystrophy as paradigm for orphan drug development
  • Promising gene therapy strategies for the treatment of muscular dystrophy
  • Future perspectives; orphan drugs in the pipeline

Alberto Malerba, Research Officer and Project Manager, Royal Holloway, University of London

  • Scaling up a patient group for Alkaptonuria (AKU)vb,
  • Building the scientific community around the disease
  • Organising clinical trials of a promising treatment

Nicolas Sireau, CEO and Chair of Trustees, AKU Society

How advances in science are revolutionising the treatment of rare diseases
Putting patients first in the treatment of rare diseases requires creating equitable access solutions
Our shared responsibility to leave no patient with a rare disease behind

Owen Marks, Country Lead Rare Diseases, Pfizer

  • Improved clinical outcomes require more than just clinical development
  • Understanding the patient journey in rare diseases is critical to successful clinical development
  • Innovative communication strategies, patient journey insights and behavioural science techniques can all contribute to improved patient outcomes


Overcoming issues with finding a suitable site and qualified investigators
What are the outcome measures and researches supporting clinical development
How to create a good working relationship between researchers and patient advocacy

Paulo Fontoura, Global Head Clinical Development Neuroscience, Roche Pharmaceuticals*

What regulatory mechanisms for pricing can be put in place to ensure fast access to needed medicines for patients with rare diseases in the region?
How can payers find ways to reduce R&D costs and eventual launch prices?
What is the argument behind undertaking of assessments if it is known in advance that the drug will not be costs effective?
How can this be changed?

Josie Godfrey, Director, JG Zebra Consulting, former Associate Director, NICE

  • How can manufacturers meet global patient demand for access to medicines prior to approval?
  • How can governments and orphan drug companies help support each other’s initiative to provide market access to patients?
  • What are some of the methods that orphan drug manufacturers can do to partner with governments to bring orphan drugs to the market?
  • What R&D strategies can be implemented to accelerate the market access for orphan drugs?

Richard Porter, Chief Operating Officer, Therachon

  • How to assess value of orphan drugs.
  • What are the key challenges with ultra orphan drugs, from a payers perspective.
  • How to deal with the uncertainty in the value assessments

Senior Adviser, Norwegian Medicines Agency

The changing environment for ultra orphan drugs
High hurdles with little data: examples of creative data generation to support value

Julian Trimming, EMEA Regional Commercial Director, Aegerion

Market implication as a result of “Brexit”
Diverse political and economic implications which can affect payers leading to potential restriction in pricing
Impact potential if current legislation is changed