Library Header Image
LSE Research Online LSE Library Services

High quality, patient centred andcoordinated care for Alstrom syndrome: amodel of care for an ultra-rare disease

Van Groenendael, Stephanie, Giacovazzi, Luca, Davison, Fabian, Holtkemper, Oliver, Huang, Zexin, Wang, Qiaoying, Parkinson, Kay, Barrett, Timothy and Geberhiwot, Tarekegn (2015) High quality, patient centred andcoordinated care for Alstrom syndrome: amodel of care for an ultra-rare disease. Orphanet Journal of Rare Diseases, 10 (149). ISSN 1750-1172

PDF - Published Version
Available under License Creative Commons Attribution.

Download (811kB) | Preview

Identification Number: 10.1186/s13023-015-0366-y


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.

Item Type: Article
Official URL:
Additional Information: © 2015 The Authors
Divisions: Management
Subjects: H Social Sciences > HD Industries. Land use. Labor > HD28 Management. Industrial Management
R Medicine > R Medicine (General)
Date Deposited: 18 Jan 2016 12:25
Last Modified: 05 Apr 2024 16:24

Actions (login required)

View Item View Item


Downloads per month over past year

View more statistics