Therapeutic profile of orphan medicines

Purpose To characterise the therapeutic profile of orphan medicines. Materials and Methods A cross‐sectional study was performed during 2 months in a convenience sample of seven hospital pharmacy services, in the region of Lisbon. Data were collected, from pharmaceutical service's records. Results A total of 18 orphan medicines, were dispensed to 355 patients with rare diseases. Most patients were adults (76.4%). Premature and neonates accounted with 50.0% of the paediatric patients. Differences were not found between the proportion of male and female patients across age groups ( p  = 0.762). Only 18.3% were inpatients. A high proportion of paediatric inpatients (58.3%) were seen in relation to adult inpatients (5.9%) ( p  = 0.001). In general, anti‐neoplastic and immunomodulating agents for rare cancers were the most frequent dispensed medicines (51.3%). In relation to paediatrics, Caffeine Citrate for primary apnoea of premature newborns had the higher frequency distribution (57.1%). Five (71.4%) medicines dispensed for paediatrics, do not have market authorisation and the remaining (28.6%) were used off‐label. For pulmonary arterial hypertension 19 of 27 patients (70.3%) were treated with Bosentan. According to evidence‐based clinical practice guidelines, Bosentan has a good level of evidence and substantial benefit: grade of recommendation A. Conclusions Most orphan medicines dispensed to paediatrics and adults were not licensed. A special pharmacovigilance program and a risk management plan through the entire life cycle should be implemented, towards effectiveness and safety of orphan medicines. Copyright © 2006 John Wiley & Sons, Ltd.