Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

Jean-Michel Heard, Charlotte Vrinten, Michael Schlander, Cinzia Maria Bellettato, Corine van Lingen, Maurizio Scarpa & the MetabERN collaboration group. Orphanet J Rare Dis 15, 3 (2020) doi:10.1186/s13023-019-1280-5

It was not the scope of this study to examine the impact of treatment costs, which was debated elsewhere, but rather to bring some indications on benefits for patient populations that are relevant to the assessment of treatment value. More accurate assessment of patient’s population benefit would require measuring markers of disease natural history and patient’s quality of life in treated patient cohorts and analysis of the results by all stakeholders, including HCPs, patients and families. Such methodological approach is needed to ensuring appropriate assessment of marketed treatment value and adapted decision on reimbursement. It is also desirable that end-users and public policy makers are involved at early steps of product development, in order to estimate the potential and/or expected value of the candidate treatments that are selected for development and future marketing. This might reduce the risk of developing and marketing products that do not adequately meet patient’s needs, and might optimize priority investments for OMPs.