European Conference on Rare Diseases - Lisbon November 27 - 28th 2007

9.00 a.m.
session 6
Recent advancements in quality assessment relevant to rare diseases

Chair person: Prof Jorge Sequeiros, Division Human Genetics, Porto, Portugal

“First, do not harm. Possibly, do good”. But how to do better? To best use medicinal products, quality information is essential. The same applies to specialised centres for rare diseases: evaluation is needed to provide the best possible care. Information on genetic testing is also key to their usefulness. In this session, speakers will demonstrate the importance of quality assessment relevant to rare diseases.

• Assessing quality of information on medicines for patients
  • Ms Isabelle Moulon, EMEA information unit
• Assessing quality of centres of expertise outcomes
  • Prof Thomas Wagner, Goethe University, Germany
• Assessing quality of information on genetic testing
  • Mr Alastair Kent, Genetic Interest Group, United Kingdom
• Debate

session 8
Addressing all patient needs, beyond medical care (1)

Chair person: Ms Lene Jensen, Rare Disorders Denmark
For chronic and severe diseases, care does not restrict to medical and paramedical care. Patients and carers require other types of care throughout their entire lives: information and support via help lines, tools to breach their isolation, leisure activities, respite care services, programmes to help their school curriculum, and organisation of the transition of the provision of services and medical from childhood to adulthood.

• Therapeutic recreation programmes
  • Mr Terry Dignan, Barretstown, Ireland
• Rare Disease Help lines
  • Ms Pamela Davies, Climb, United Kingdom
• Fighting isolation for very rare disease patients (via help lines)
• The role of online communities for people living with a rare disease
  • Ms Cécile Méadel, CNRS, France
• Debate

session 7

Chair person: Prof Hubertus Leufkens, Dutch Steering Committee for Orphan Drugs, Netherlands
New initiatives in Member States for RD
Europe is rich of its diversity. Any new initiative that arises in a member state can rapidly give birth to similar actions in all member states. This session will highlight three examples of national actions that can be multiplied by 27: the Portuguese plan for rare diseases, the Italian actions for rare disease research, the French emergency card for rare diseases.

• Portugal - a national plan for rare diseases centred on patient needs
  • Mr Jose Robalo, Direction General of Health, Portugal
• New Italian actions
  • Dr Domenica Taruscio, Instituto Superiore di Sanita, Italy
• The French Emergency Card experience
  • Dr Christophe Leroy, Louis Mourier Hospital France,
• Debate

session 9
Addressing all patient needs, beyond medical care (2)

Chair person: Mr Michele Li Pucci, Thalassemia Organisation, Italy

Session 8 continued.

• Respite care – so that their patients and carers can have a break from daily routine
  • Dr Brigitte Soudrie, Centre Marin d’Hendaye, France
    
• Rare diseases at school
  • Dr Anne-Postel Vinay, Integrascol, Necker Hospital, France
• Rare diseases patients from childhood to adulthood – Learning from experience
  • Mr Jes Rahbeck, the case of Duchenne Muscular Dystrophy, Denmark
• Debate

session 10
Making the most of the EU Research policy

Chair person: Ms Tsveta Schyns, Alternating Hemiplegia, Austria
In this session on research on rare diseases, speakers will address the need for collaboration between European and national research policies, explain the broad spectrum of research in biomedicine, public health, social science, and ethics, and they will also call for a favourable environment to transfer discoveries from academia to industry. Various workshops took place in 2007 on this theme, with the participation of European Commission DG Research, patients, and industry.

• Achievements and perspectives– DG Research workshop outcomes
  • Dr Catherine Berens, European Commission DG Research
• Expectations and Contributions from patients – The European Workshop outcomes (Capoira project)
  • Ms Fabrizia Bignami, Eurordis
• Expectations and Contributions from pharma & biotech industry
• Debate

• Seven years of orphan drugs policy: what’s next?
  • Dr Kerstin Westermark, Chair of the COMP, EMEA
• Preparing the European scenario for advanced therapies (opportunities of gene therapy, cell therapy, future EU Regulation)
  • Ms Anne-Marie Masquelier, Genethon, France
• Timely and equitable access to orphan medicines across Member States – The European HAS and EPPOSI Workshops outcomes
• Debate

4.00 p.m.
Take home messages for action now.

Prof Josep Torrent i Farnell