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

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.