Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases.

Autor: Priego Zurita AL; Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands. Electronic address: a.l.priego_zurita@lumc.nl., Grasemann C; Department of Pediatrics, Division of Rare Diseases, Ruhr-University Bochum, Bochum, Germany., Boarini M; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy., Chapurlat R; INSERM UMR, 1033 and Université de Lyon, Lyon, France., Mordenti M; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy., Javaid MK; NDORMS, University of Oxford, Oxford, United Kingdom., Appelman-Dijkstra NM; Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2023 Dec; Vol. 66 (12), pp. 104868. Date of Electronic Publication: 2023 Oct 30.
DOI: 10.1016/j.ejmg.2023.104868
Abstrakt: Background: knowledge on the natural history of rare diseases is necessary to improve outcomes. Disease registries may play a key role in covering these unmet needs in the rare bone and mineral community.
Objective: to map existing bone and mineral conditions registries in Europe and their characteristics.
Methods: online survey about the use of registries/databases and their characteristics. This survey was disseminated among members of the European Reference Network on Rare Bone Diseases (ERN BOND) and non-ERN experts in the field of bone and mineral conditions as well as patient organisations.
Results: sixty-three responses from health care providers (HCPs) and 10 responses from patient groups (PGs) were collected. The response rate for ERN BOND members was 55%. Of 63 HCPs, 37 declared using a registry. Osteogenesis imperfecta (OI) was the most registered condition. We mapped 3 international registries, all were disease-specific.
Conclusions: There is a need for developing a common high-quality platform for registering rare bone and mineral conditions.
Competing Interests: Declaration of competing interest The authors declare that they have no competing interests.
(Copyright © 2023 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)
Databáze: MEDLINE
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