Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases.
Eur J Med Genet
; 66(12): 104868, 2023 Dec.
Article
em En
| MEDLINE
| ID: mdl-38832910
ABSTRACT
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sistema de Registros
/
Doenças Raras
Limite:
Humans
País/Região como assunto:
Europa
Idioma:
En
Revista:
Eur J Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2023
Tipo de documento:
Article
País de publicação:
Holanda