title: Therapeutic profile of orphan medicines.
abstract: OBJECTIVE
  To characterise the therapeutic profile of orphan medicines.
  
  
  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.
authors.affiliation: Faculty of Pharmacy, Social Pharmacy Department, University of Lisbon, Lisboa, Portugal. ctbarros@ff.ul.pt
authors.forename: Carla Maria Teixeira
authors.initials: CM
authors.lastname: de Barros
authors.forename: Ana Luísa
authors.initials: AL
authors.lastname: Papoila
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000959:Antihypertensive Agents / Q000627:therapeutic use; D000970:Antineoplastic Agents / Q000627:therapeutic use; D000077300:Bosentan; D002110:Caffeine / Q000627:therapeutic use; D000697:Central Nervous System Stimulants / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D002951:Citrates / Q000627:therapeutic use; D003430:Cross-Sectional Studies; D004348:Drug Labeling; D011307:Drug Prescriptions / Q000706:statistics & numerical data; D004363:Drug Utilization / Q000706:statistics & numerical data; D005260:Female; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009965:Orphan Drug Production / Q000706:statistics & numerical data*; D010607:Pharmacy Service, Hospital / Q000706:statistics & numerical data*; D011174:Portugal; D035583:Rare Diseases / Q000188:drug therapy*; D013449:Sulfonamides / Q000627:therapeutic use
chemical_list: D000959:Antihypertensive Agents; D000970:Antineoplastic Agents; D000697:Central Nervous System Stimulants; D002951:Citrates; D007155:Immunologic Factors; D013449:Sulfonamides; D002110:Caffeine; D000077300:Bosentan; C026189:caffeine citrate