Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases.
Database
European reference network
Natural history
Rare bone and mineral conditions
Rare disease registries
Survey
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
04
05
2023
revised:
19
09
2023
accepted:
15
10
2023
medline:
4
6
2024
pubmed:
4
6
2024
entrez:
4
6
2024
Statut:
ppublish
Résumé
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. to map existing bone and mineral conditions registries in Europe and their characteristics. 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. 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. There is a need for developing a common high-quality platform for registering rare bone and mineral conditions.
Sections du résumé
BACKGROUND
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
OBJECTIVE
to map existing bone and mineral conditions registries in Europe and their characteristics.
METHODS
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
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
CONCLUSIONS
There is a need for developing a common high-quality platform for registering rare bone and mineral conditions.
Identifiants
pubmed: 38832910
pii: S1769-7212(23)00174-X
doi: 10.1016/j.ejmg.2023.104868
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
104868Informations de copyright
Copyright © 2023 The Authors. Published by Elsevier Masson SAS.. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare that they have no competing interests.