Therapeutic profile of orphan medicines.
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.
de Barros
Carla Maria Teixeira
CM
Faculty of Pharmacy, Social Pharmacy Department, University of Lisbon, Lisboa, Portugal. ctbarros@ff.ul.pt
Papoila
Ana Luísa
AL
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
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