Current landscape of orphan disease clinical research in Colombia: a scoping review

The main objective of this scoping review is to evaluate the current state of clinical trial research on orphan diseases in Colombia over the past five years. A scoping review on the clinical trials studying the orphan diseases listed in the 023 resolution of 2023 in Colombia was conducted. A thorough search strategy was applied to the Instituto Nacional de Vigilancia de Medicamentos y Alimentos (INVIMA) database from the 1st of May 2020 and the 30th of April 2024. Trials were screened and analyzed by two reviewers. A total of 74 clinical trials were included and analyzed for this review. Of the 2247 diseases listed on the Colombian Rare Disease Registry, only 29 are under study in Colombia. The diseases mentioned in the greatest number of clinical trials were Crohn disease (18.9%), idiopathic pulmonary arterial hypertension (13.5%), paroxysmal nocturnal hemoglobinuria (10.8%), multiple sclerosis (9.5%) and idiopathic pulmonary fibrosis (6.8%). Regarding study phase, 70.3% were phase III, 16.2% were phase II, 9.5% were phase II/III and 4.1% were phase I/II. While most studies were conducted in more than one city, Bogota (39.2%), Medellin (33.8%) and Cali (25.7%) had the highest number of clinical trials conducted. The results of this review show a dynamic and diverse field of research on orphan diseases in Colombia; however, they also serve as a reflection on the many barriers faced by both researchers and patients. Further reviews on each individual disease to evaluate their barriers and new treatment options should be conducted.