Background Friedreich's ataxia (FA) is a rare progressive and multi systemic neurodegenerative disorder characterized by loss of coordination, typically resulting in loss of ambulation. Cardiomyopathy, diabetes mellitus, and scoliosis are common and serious manifestations of the disease. This project explores the FA patient pathways, healthcare use and costs, and compares people's care experiences attending specialist ataxia centres (SAC) with care in non–specialist settings in three European countries. Methods We collected data in the UK, Germany and Italy using a patient survey, to gather information about the diagnosis and the management of the ataxias in SAC and non-SAC settings, healthcare visits, and patient's satisfaction. We compared per-patient mean resource use for each contact type and health service cost, stratifying patients by SAC attendance. Results Our cohort is 97 patients with FA over 16 years old, living in UK ( N = 27), Germany ( N = 14) and Italy ( N = 56) with a confirmed diagnosis of FA. This cohort valued the SAC services in understanding their condition, offering opportunities to take part in research, and delivering care adapted to their needs. Our results highlight the patient's appreciation for SAC services compared to non-SAC without any significant change in costs. We identified similar barriers for patients in accessing SACs in the selected countries. Conclusions This study shows the value of SAC specifically for the management of complex rare conditions like FA. The outcomes of our work will be used for policy recommendations on how to improve treatment and care for people with rare neurological disorders across Europe.
Vallortigara et al. (Thu,) studied this question.