High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease

Abstract

BackgroundPatients 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.MethodsBetween 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.ResultsOne 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.ConclusionsOur 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.

Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the ALMS1 gene

“…Annual review clinics in a multidisciplinary team have been suggested for tertiary referral centres like ours with exams individually tailored to the complex needs of patients with ALMS and other ultra‐rare diseases for the convenience of the patients but also to serve as nuclei in driving large‐scale research in ultra‐rare diseases such as ALMS (Van Groenendael et al. ).…”

“…; Van Groenendael et al. ). Initially, the fundus appearance may be normal or near normal, eventually progressing to retinal dystrophy exhibiting attenuated vessels, pale optic discs and partial atrophy of the retinal pigment epithelium (RPE) without intraretinal pigment migration (Marshall et al.…”

“…The lifespan of patients with ALMS rarely exceeds 40 years (Marshall et al 2007a). The prevalence estimate is less than one in a million people globally (Van Groenendael et al 2015). There is no specific therapy for ALMS, but early diagnosis and intervention can moderate the progression of some of the disease phenotypes and improve the longevity and quality of life for the patients (Van Groenendael et al 2015).…”

Refining genotype–phenotype correlation in Alström syndrome through study of primary human fibroblasts

“…We have studied 23 patients attending a national specialized clinic for Alström syndrome (Van Groenendael et al. ). The spectrum of clinical severity was approximately in keeping with prior reports of the natural history of the syndrome (Michaud et al.…”

Why we should care about ultra-rare disease

“…Recent research has shown that a well-organised, patient-centred, multidisciplinary approach is more patient friendly and generates better outcomes than the current care model [19].…”