Contribution of patient registries to regulatory decision making on rare diseases medicinal products in Europe

Abstract

Between 2000 and 2021, the European Medicines Agency (EMA) assigned the orphan designation to over 1,900 medicines. Due to their small target populations, leading to challenges regarding clinical trial recruitment, study design and little knowledge on the natural history of the disease, the overall clinical evidence submitted at the time of marketing authorisation application for these medicines is often limited. Patient registries have been recognised as important sources of data on healthcare practices, drug utilisation and clinical outcomes. They may help address these challenges by providing information on epidemiology, standards of care and treatment patterns of rare diseases. In this review, we illustrate the utility of patient registries across the different stages of development of medicinal products, including orphans, to provide evidence in the context of clinical studies and to generate post-authorisation long term data on their effectiveness and safety profiles. We present important initiatives leveraging the role of registries for orphan medicinal products’ development and monitoring to ultimately improve patients’ lives.

Contribution of Real‐World Evidence in European Medicines Agency's Regulatory Decision Making

“…Of the many possible sources of RWD, literature, medical records, and registries were most commonly used in this study. As was also recognized in the CHMP assessment, registries have the potential to obtain data from a relatively significant number of patients over the years in cases of rare diseases 6,24 …”

“…As was also recognized in the CHMP assessment, registries have the potential to obtain data from a relatively significant number of patients over the years in cases of rare diseases. 6 , 24…”

“… 4 , 5 RWD can contextualize results of clinical trials by providing evidence on the natural disease course or standard of care, by serving as an external comparator arm for medicines evaluated in single‐arm trials, or by assessing long‐term effects or adverse events post authorization. 6 Furthermore, it is increasingly used to guide clinical trial designs, e.g., in selecting trial populations or calculating sample sizes. 7 Recent studies have shown the integration of RWE in marketing authorization applications (MAAs) over the past years.…”

Leigh Syndrome Global Patient Registry: Uniting Patients and Researchers Worldwide

“…[4] More importantly in rare diseases, patient registries have become e cient tools in providing valuable patient data, considering the heterogeneous disease pro le, small patient population, and limited funding. [6,7] Cure Mito Foundation recognized these challenges and initiated the Leigh syndrome Global Registry in September 2021. Cure Mito Foundation is a parent-led, fully volunteer foundation dedicated to advancing education and research for Leigh syndrome and mitochondrial disease.…”

Editorial: Safety and side effects of psychotropic medications

“…Despite this, the tolerability profile of psychopharmacological therapy remains an area for improvement on which patients, caregivers, and health care providers agree (4,5). To fill this gap, various strategies have been applied, which improve the quality of data available on adverse drug reactions (ADRs) related to psychiatric therapy (6)(7)(8). Notherless, much remains to be investigated about the systemic effects of psychoactive medicines, their pharmacokinetic and pharmacodynamic interactions, and the variability of these consequences in frail and special populations (9-13).…”