RWE4Decisions Webinar: Improving Rare Disease Data Availability and Quality for HTA/Payers

Karen Facey worked as a statistician in the pharmaceutical sector and UK medicines regulation, before becoming founding Chief Executive of the first national HTA agency in Scotland. Since 2003, Karen has been an independent HTA consultant with special interests in RWD, rare diseases and patient involvement. She is passionate about holistic HTA to determine value and use of health service data to improve patient care. Karen also works with the University of Oxford as a Senior HTA Advisor in the IHI Guidelines for RWE Generation project and with Utrecht University in the SUSTAIN HTA Coordinating Support Action.

Victoria Hodgkinson serves as Executive Director of a digital health innovation program at the University of Calgary and leads the Canadian Neuromuscular Disease Registry. She has contributed to numerous studies generating real-world evidence for regulatory and HTA bodies internationally. Her work is particularly focused on advancing policies and best practices for the use of registry data in regulatory and HTA decision-making to support access to novel therapies.

Dr. Hodgkinson is also the Chief Scientific Officer at Lumiio Inc., where she leads the scientific strategy, management, and coordination of national and global patient registries and real-world data programs spanning more than 60 countries. Her work focuses on building and optimizing RWE programs and rare disease consortia to improve outcomes for patient communities through multi-stakeholder collaboration, program design and operations, and the implementation of digital tools.

She holds a bachelor’s degree from Cornell University and a PhD from the University of Missouri.

Prof. Maurizio Scarpa is the Coordinator of the European Reference Network for Hereditary Metabolic Diseases (MetabERN), formed by 69 health care professionals in 18 EU countries and treating 43,000 metabolic patients. In addition, he is the president of the High-Level Meeting on Rare Diseases and the Founder and President of the Brains for Brain Foundation.

Previous to these roles, he was the Coordinator of the European Commission’s Project INNERMED, which set up an information network for neuro-metabolic disorders.

Prof. Scarpa has extensive expertise as a scientist in genetics and biotechnology, and as a clinician in the diagnosis and treatment of paediatric rare disorders, particularly neurometabolic diseases. He is especially interested in developing innovative health approaches for the diagnosis and the treatment of metabolic inherited diseases. Furthermore, he is a professor of Paediatrics at the Department of Women’s and Children’s Health at the University of Padova in Italy.

Dr. Nicole Mittmann is the Chief Scientist and Vice-President of Scientific Evidence, Methodologies and Resources at Canada’s Drug Agency. She is responsible for promoting active learning, assuring rigour and quality, linking science to strategy, and sharing evidence through the Canadian Journal of Health Technologies and other sources. To do this, she leads the shared science groups, including Science and Methods, Health Economics, Research Information Services, and the Publishing team.

Dr Mittmann has conducted and collaborated on notable research in areas of economic evaluations, outcomes research, and drug patient safety. She also holds a faculty position as an assistant professor at the University of Toronto in the Department of Pharmacology and Toxicology, and is cross-appointed to the Institute for Health Policy, Management and Evaluation. In addition, she is also an associate scientist at Sunnybrook Health Sciences Centre in Toronto, Canada.

Prof. Dr. Ir. Wim Goettsch serves as a Special Advisor in Health Technology Assessment (HTA) at the Dutch National Health Care Institute (ZIN). In this role, he is also a Member of the EU HTAR Coordination Group and its subgroup on Joint Scientific Consultations (JSC). Since December 2022, he has held the position of Professor and Chair on HTA of pharmaceuticals at Utrecht University in the Netherlands, where he led the HTx project – an H2020 consortium of fifteen partners around Europe, focused on advancing new methods for HTA. Since 2024, he is also the coordinator of a Horizon Europe Project called SUSTAIN-HTA, that has a purpose to build a supporting infrastructure to ensure ongoing implementation of the latest and fit-for-purpose HTA methodologies and tools in practice. He has more than 150 publications in peer-reviewed international journals.

François Houÿez has been a patient advocate since the early 1990s (HIV/AIDS, Act Up-Paris, and EATG) and joined EURORDIS in May 2003. He now serves as Director of Information & Access to Therapies and Health Policy Advisor. He represents EURORDIS as the Patients’ and Consumers’ Working Party at the European Medicines Agency (EMA), in ACT EU (Accelerating Clinical Trials in the EU), and the Health Technology Assessment Network. Moreover, he oversees EURORDIS’s Community Advisory Board (EuroCAB) programme. He also serves as the Secretary of the Executive Board of the GetReal Institute on Real-World Data, and is a member of the National Academy of Pharmacy in France. François compiles trend information and regularly assists rare disease patients facing issues with access to treatments, including market authorisation, health technology assessment, pricing and reimbursement, compassionate use, shortages, and pharmacovigilance.

Alessio Amadasi is the Vice President of Medical Affairs EU/International in the Global Rare Disease Unit of Chiesi Group. He is leading the design and implementation of forward-thinking strategic medical initiatives in EU and International Region, leveraging partnership and collaboration with external stakeholders to drive innovative research and educational projects, and to scout opportunities for advancements of care across the different therapeutic areas belonging to the Chiesi rare disease portfolio.
He brings several years of experience in Medical Affairs and, previously, in Global Marketing and New Product Planning positions focusing on both rare diseases and specialty care areas. In his previous roles, Alessio also matured experience in private-public partnerships aimed at driving innovation in the EU Healthcare sector in the frame of the previous European Innovative Medicine Initiative. Alessio received his PhD in Biochemical Sciences from the University of Turin and a master’s degree in Pharmaceutical Chemistry and Technology from University of Parma, Italy.

Karen Facey worked as a statistician in the pharmaceutical sector and UK medicines regulation, before becoming founding Chief Executive of the first national HTA agency in Scotland. Since 2003, Karen has been an independent HTA consultant with special interests in RWD, rare diseases and patient involvement. She is passionate about holistic HTA to determine value and use of health service data to improve patient care. Karen also works with the University of Oxford as a Senior HTA Advisor in the IHI Guidelines for RWE Generation project and with Utrecht University in the SUSTAIN HTA Coordinating Support Action.