Review of Rare Disease Registries Across EU5 Countries

Abstract

Due to the widely-dispersed small number of patients with a given rare disease (RD), there is generally a lack of validated biomarkers and endpoints in RDs. This poses a major challenge for generating clinical data for healthcare decision-making in RD. Registries can provide a rich source of real-world evidence to aid healthcare providers, payers, and regulators in decision making. This review aimed to identify and assess key characteristics of the RD registries reporting data from EU5 countries. MethOds: Registries were identified through a systematic search of MEDLINE® and EMBASE® databases for the last 15 years. Any data on RD patients from EU5 countries were included. Registry publications (English language only) and websites were assessed for information on patient demographics and disease characteristics, epidemiology, disease management, resource use, patientreported outcomes (PROs) and funding agency. Results: The review identified 52 registries reporting data for RDs. Six were multinational, while 46 were national. Twenty registries collected data from the UK, 15 from France, 12 from Germany, 10 from Italy, and nine from Spain; 31 registries collected data for a specific RD, while 21 registries collected data for various RDs. The number of included patients varied from 61 to 12,500. Of these registries, 41% were initiated during the last 10 years and 14% were industry-funded, 55% were non-industry-funded, while funding information was unclear for 31% registries. Data were available for baseline demographics (in 96% of registries), patient and disease-related characteristics (96%), incidence/prevalence (77%), mortality (69%), treatment-related information (42%), PROs (6%), and cost/resource use (4%). A dedicated website was available for 62% of registries; however, information on data accessibility was not clearly available for most of these registries. cOnclusiOns: Our review demonstrates that registries can provide valuable real-world information on patients with RD, supplementing the limited findings from clinical trials, to inform health-care decision-making.

Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study

“…Next to identifying complex needs in MCT8 deficiency, this study exemplifies the potential of international prospective patient registries for rare diseases. Importantly, whereas many rare disease registries primarily collect medical physician-derived information ( 16 , 17 ), our registry also collects patient-/parent-reported outcomes, filling a need that has been emphasized by the International Rare Diseases Research Consortium ( 18 ).…”