Regulation and analysis of the access to orphan drugs in the pediatric population in Spain.

Abstract

Between 70% and 80% of rare diseases are of genetic origin, so most of them have onset during childhood. They share common features, including delayed or absent diagnosis; being severe, chronic, and disabling; lack of effective treatments; and insufficient knowledge or awareness among health care professionals and society at large. Their management frequently requires specific treatment with orphan drugs. However, the development of pediatric orphan drugs and their accessibility continue to be limited. The aim of this study was to describe the situation of pediatric orphan drugs in Spain as of December 31, 2025. Cross-sectional descriptive study based on the review of the scientific literature and regulatory databases between 2013 and 2025. We identified all the orphan drugs included in the CIMA database of the Spanish Agency of Medicines and Medical Devices (AEMPS) and reviewed their summaries of product characteristics to determine their pediatric indications. We analyzed variables related to the authorization, commercialization, funding, and clinical characteristics of the drugs. We identified a total of 67 orphan drugs with pediatric indications authorized in Spain, which amounted to 50% of all orphan drugs. Of these, 22.4% were only indicated for pediatric use. Forty-nine (73.1%) were marketed and 46 were funded by the Spanish national health system, with restrictions in 63% of the funded cases. Orphan drugs with pediatric indications remain a minority among orphan drugs. Pediatric clinical research needs to be reinforced, and strategies implemented to ensure more agile, equitable, and coordinated access. This study provides an updated overview based on official regulatory sources, although it did not allow the assessment of aspects such as access times or regional variability.