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

Zurita, A.L.P.; Grasemann, C.; Boarini, M.; Chapurlat, R.; Mordenti, M.; Javaid, M.K.; Appelman-Dijkstra, N.M.; ERN BOND Working Group

doi:doi:10.1016/j.ejmg.2023.104868

Persistent URL of this record https://hdl.handle.net/1887/3721119

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Zurita, A.L.P.; Grasemann, C.; Boarini, M.; Chapurlat, R.; Mordenti, M.; Javaid, M.K.; ... ; ERN BOND Working Group (2023)

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

Article / Letter to editor

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...Show moreBackground: 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.Show less

Database

European reference network

Natural history

Rare bone and mineral conditions

Rare disease registries

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