ECRD 2014 Berlin: The European Conference on Rare Diseases & Orphan Products attracted over 750 participants from 40 countries
Organised by EURORDIS, in collaboration with the DIA, the 7th European Conference on Rare Diseases and Orphan Products (ECRD 2014) took place 8-10 May in Berlin. ECRD 2014 attracted over 750 stakeholders - patient representatives, health professionals, scientists, industry, policy makers, regulators and payers - from over 40 countries. The conference proposed 36 sessions around six themes: Improving Healthcare Services; Knowledge Generation & Dissemination; Research from Discovery to Patients; State of the Art & Innovative Practices in Orphan Products; Emerging Concepts & Future Policies for Rare Disease Therapies; and Beyond Medical Care.
EU policy and national strategies on shaping rare disease research were widely discussed, as well as concrete experiences at country level. As it is impossible to report briefly on such an important event, only a few topics were picked up to give a flavour of the wide range of topics covered. Tino Münster’s (OrphanAnesthesia) presentation of OrphanAnesthesia described efforts to improve patient safety by publishing recommendations for physicians on rare disease patient anaesthesia. These standardised and peer-reviewed recommendations, based on published research and clinical experience, are available to physicians worldwide.
Kym Boycott (Children Hospital of Eastern Ontario) presented Care for Rare, a pan-Canadian project in support of gene discovery, diagnosis and treatment of rare diseases. Care for Rare aims to improve patient care and establish a favourable eco-system for collaboration, the four essential ingredients of which are: 1) common goals, 2) a community (here, the Canadian College of Medical Geneticists), 3) shared resources and expertise (such as PhenomeCentral) at national and, ideally, international levels, and 4) teamwork, including researchers, clinicians, families and public-private partnerships.
Christine Mummery (Developmental Biology, Leiden University Medical Centre) illustrated how cardiomyocytes (cardiac muscle cells) derived from induced pluripotent stem (iPS) cells of patients with inherited arrhythmias provide a better understanding of the disease and an alternative to animal models in clinical research. These iPSCs disease models show notable potential for drug research and development, drug toxicology and safety pharmacology.
Luca Pani (Italian Medicines Agency), Pauline Evers and Pat Furlong (European genetic alliances network / Dutch Federation of Cancer Patient Organisations), Mark Rothera (PTC Therapeutics) and Yann Le Cam (EURORDIS) discussed the European Medicines Agency’s adaptive licensing pilot project. Adaptive licensing aims to improve timely access to new treatments through post-marketing authorisation clinical safety and efficacy studies (PASSs/PAESs). The rationale for setting clinical endpoints and therapeutic outcomes for rare disease treatments raised many issues.
Thomas Heynisch (European Commission) led discussions on the Mechanism of Coordinated Access (MoCA) to orphan medicinal products (OMPs). Four stakeholder representatives from the MoCA working group, Wills Hughes-Wilson (Sobi), Yann Le Cam, Ri De Ridder (RIZIV-INAMI) and Luca Pani, further discussed optimising patient access to OMPs, tackling issues such as pricing and reimbursement at national level, and managed entry agreements. The group presented the Transparent Value Framework as a means for stakeholders to question the value of individual OMPs, discuss in-country pricing and reimbursement, and consider managed entry agreements. The reports of the MoCA working group are available online.
As increasing numbers of rare diseases are discovered, so are patients who suffer from them. European agencies and the industry are responding to unmet needs and scientific advancement through research and development funding prioritisation. ECRD 2014 Berlin highlighted the importance of collaboration and coordination, from research to patient care and reimbursement. Dialogue remains essential at all stages and with all stakeholders to enhance value in rare disease projects.
EURORDIS will publish a full report later on this year. In the meantime, Presentations and posters are available online.
The next ECRD will take place in 2016 in Edinburgh.
Photos courtesy of EURORDIS