title: High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease.
abstract: BACKGROUND
  Patients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragmented care. We analysed the national service for an ultra-rare disease, Alstrom syndrome, and compared the outcome and cost of the service to the standard care.
  
  
  METHODS
  Between the 9th and 26th of March 2014 we undertook a cross-sectional study of the UK Alstrom syndrome patients and their carers. We developed a semi-structured questionnaire to assess our rare patient need, quality of care and costs incurred to patients and their careers. In the UK all Alstrom syndrome patients are seen in two centres, based in Birmingham, and we systematically evaluated the national service and compared the quality and cost of care with patients' previous standard of care.
  
  
  RESULTS
  One quarter of genetically confirmed Alstrom syndrome UK patients were enrolled in this study. Patients that have access to a highly specialised clinical service reported that their care is well organised, personalised, holistic, and that they have a say in their care. All patients reported high level of satisfaction in their care. Patient treatment compliance and clinic attendance was better in multidisciplinary clinic than the usual standard of NHS care. Following a variable costing approach based on personnel and consumables' cost, our valuation of the clinics was just under £700/patient/annum compared to the standard care of £960/patient/annum. Real savings, however, came in terms of patients' quality of life. Furthermore there was found to have been a significant reduction in frequency of clinic visits and ordering of investigations since the establishment of the national service.
  
  
  CONCLUSIONS
  Our study has shown that organised, multidisciplinary "one stop" clinics are patient centred and individually tailored to the patient need with a better outcome and comparable cost compared with the current standard of care for rare disease. Our proposed care model can be adapted to several other rare and ultra-rare diseases.
authors.affiliation: London School of Economics, London, UK. stephanie.vangroenendael@gmail.com.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Van Groenendael
authors.affiliation: London School of Economics, London, UK. aculgee@gmail.com.
authors.forename: Luca
authors.initials: L
authors.lastname: Giacovazzi
authors.affiliation: London School of Economics, London, UK. fabian.davison@hotmail.com.
authors.forename: Fabian
authors.initials: F
authors.lastname: Davison
authors.affiliation: Oliver Holtkemper, London, UK. oliver.holtkemper@gmx.de.
authors.forename: Oliver
authors.initials: O
authors.lastname: Holtkemper
authors.affiliation: London School of Economics, London, UK. zexin.huang945@gmail.com.
authors.forename: Zexin
authors.initials: Z
authors.lastname: Huang
authors.affiliation: London School of Economics, London, UK. chloe@xiaomi.com.
authors.forename: Qiaoying
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Alstrom UK, London, UK. kay.parkinson@outlook.com.
authors.forename: Kay
authors.initials: K
authors.lastname: Parkinson
authors.affiliation: Institute of Cancer and Genomic Sciences, University of Birmingham, London, UK. T.g.barrett@bham.ac.uk.
authors.forename: Timothy
authors.initials: T
authors.lastname: Barrett
authors.affiliation: Department of Endocrinology, University Hospital of Birmingham, London, UK. targeb@gmail.com.
authors.forename: Tarekegn
authors.initials: T
authors.lastname: Geberhiwot
mesh_terms: D056769:Alstrom Syndrome / Q000191:economics* / Q000453:epidemiology / Q000628:therapy*; D003365:Costs and Cost Analysis / Q000379:methods; D003430:Cross-Sectional Studies; D006801:Humans; D018802:Patient-Centered Care / Q000191:economics* / Q000379:methods; D011788:Quality of Life; D035583:Rare Diseases / Q000191:economics* / Q000453:epidemiology / Q000628:therapy*; D006113:United Kingdom / Q000453:epidemiology