title: Cost of illness associated with Niemann-Pick disease type C in the UK.
abstract: OBJECTIVE
  Niemann-Pick disease type C (NP-C) is a rare and devastating genetic disorder characterised by a range of progressive neurological symptoms, which imposes a burden on patients, family members, the healthcare system and society overall. The objective of this study was to assess direct and indirect costs associated with NP-C in the UK.
  
  
  METHODS
  This was a non-interventional, retrospective, cross-sectional cohort study based on responses from patients and/or their carers/guardians recruited from a UK NP-C database. Resource use and direct medical, direct non-medical and indirect costs were evaluated using data collected via postal survey in October 2007, which included a Medical Resource Use questionnaire. Total annual costs per patient were estimated.
  
  
  RESULTS
  In total, 18 Medical Resource Use questionnaires (29% response rate) were received and analysed. The mean total annual cost (SD) of NP-C per patient was 39,168 pounds (50,315 pounds); 46% were direct medical costs, to which home visits and residential care contributed 68% and 15%, respectively. Direct non-medical costs accounted for 24% of the average annual cost per patient, mainly due to specialist education, and indirect costs 30%. If only direct medical costs were considered, the mean annual cost (SD) per patient was reduced to 18,012 pounds (46,536 pounds).
  
  
  CONCLUSIONS
  The direct annual per-patient cost of NP-C illness in 2007 appears moderate when compared with other rare and severely disabling diseases. However, cost estimates may be conservative, since findings are limited by a small sample size, low survey response rate and potential recall bias. As demonstrated by this study, a substantial proportion of the cost is shifted from the healthcare system to the patient, family and non-medical providers. These findings highlight the need for treatments that can slow or stop disease progression in NP-C.
authors.affiliation: Willink Biochemical Genetics Unit, St. Mary's Hospital, Manchester, UK. jacqueline.Imrie@cmft.nhs.uk
authors.forename: Jackie
authors.initials: J
authors.lastname: Imrie
authors.forename: Carmen
authors.initials: C
authors.lastname: Galani
authors.forename: Kerry
authors.initials: K
authors.lastname: Gairy
authors.forename: Kevin
authors.initials: K
authors.lastname: Lock
authors.forename: Elke
authors.initials: E
authors.lastname: Hunsche
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D017281:Cost of Illness; D003430:Cross-Sectional Studies; D005260:Female; D019538:Health Care Surveys; D006296:Health Services / Q000191:economics*; D006801:Humans; D008297:Male; D052556:Niemann-Pick Disease, Type C / Q000191:economics*; D012189:Retrospective Studies; D006113:United Kingdom; D055815:Young Adult