{Reference Type}: Journal Article
{Title}: Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases.
{Author}: Priego Zurita AL;Grasemann C;Boarini M;Chapurlat R;Mordenti M; ;Javaid MK;Appelman-Dijkstra NM;
{Journal}: Eur J Med Genet
{Volume}: 66
{Issue}: 12
{Year}: 2023 Dec
{Factor}: 2.465
{DOI}: 10.1016/j.ejmg.2023.104868
{Abstract}: <B>BACKGROUND: </B>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><B>OBJECTIVE: </B>to map existing bone and mineral conditions registries in Europe and their characteristics.<BR><B>METHODS: </B>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><B>RESULTS: </B>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><B>CONCLUSIONS: </B>There is a need for developing a common high-quality platform for registering rare bone and mineral conditions.