Reacción a "Reactions to the new mapping of rare disease diagnoses in Spain since 1960"

The team from the Institute for Rare Diseases Research (IIER) of the Carlos III Institute of Health has worked with the utmost rigour, in close collaboration with patients, within a project in which the Spanish Federation of Rare Diseases and the State Reference Centre for Rare Diseases (CREER) also participate. Furthermore, the work is aligned with the objectives of IRDiRC, the International Rare Diseases Research Consortium. To do so, they have taken as a basis the Rare Disease Patient Registry (RePER), a national registry that includes all rare diseases. The authors performed a multivariate analysis with logistic regression, and the work is unprecedented in Spain. This work has generated evidence on the basis of which it is possible to try to correct the identified determinants of diagnostic delay in rare diseases and, therefore, to contribute to shortening it, which is a very relevant implication for the real world of patients with these pathologies and their families.