European journal of medical genetics · 2023
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases.
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Priego Zurita Ana Luisa, Grasemann Corinna, Boarini Manila, Chapurlat Roland, Mordenti Marina, ERN BOND Working Group 5, Javaid Muhammad Kassim, Appelman-Dijkstra Natasha M
Аннотация
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.
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.