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Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases.
- Source :
-
European journal of medical genetics [Eur J Med Genet] 2023 Dec; Vol. 66 (12), pp. 104868. Date of Electronic Publication: 2023 Oct 30. - Publication Year :
- 2023
-
Abstract
- 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.<br />Objective: to map existing bone and mineral conditions registries in Europe and their characteristics.<br />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.<br />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.<br />Conclusions: There is a need for developing a common high-quality platform for registering rare bone and mineral conditions.<br />Competing Interests: Declaration of competing interest The authors declare that they have no competing interests.<br /> (Copyright © 2023 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 1878-0849
- Volume :
- 66
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- European journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 38832910
- Full Text :
- https://doi.org/10.1016/j.ejmg.2023.104868