Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry

Juan Benito-Lozano, Blanca López-Villalba, Greta Arias-Merino, Manuel Posada de la Paz & Verónica Alonso-Ferreira; Orphanet J Rare Dis 17, 418 (2022). doi:10.1186/s13023-022-02530-3 

This is the first study to quantify time to diagnosis of RDs in Spain, based on data from a national registry open to any RD. Since over half of all persons affected by RDs experience delay in diagnosis, new studies are needed to ascertain the factors associated with this delay and the implications this has on the lives of patients and their families.

Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry