TP2 TREATMENT PATTERNS IN SPINAL MUSCULAR ATROPHY: INTERVIEWS WITH HEALTHCARE PROFESSIONALS IN THE UNITED KINGDOM

Abstract

Spinal muscular atrophy (SMA) is a rare genetic disorder characterized by weakness and atrophy in skeletal muscles. Excluding the prenatal onset form (type 0), SMA is classified into 4 phenotypes based on severity, with type 1 being the most severe. Emerging treatments are shifting the treatment paradigm, but little is known about current treatment patterns. The objective is to collect data on treatment patterns in SMA types 1, 2 and 3 in the UK through health care professional (HCP) interviews. HCPs, who had seen at least 2 patients with SMA in the past 12 months, were recruited through contacts in clinical centers in the UK. Informed consent was obtained from all respondents with subsequent telephone interviews. Interviews were conducted with 16 HCPs from 8 UK regions: nine neurologists, three pulmonologists, two physiotherapists, one nurse, and one health visitor. HCPs reported that paths to diagnosis depend on symptom timing, and HCPs involved. Time to diagnosis was estimated at up to 3 months for SMA 1, and up to 12 months for SMA 2 and 3. HCPs agreed on key approaches to management and care coordination. Patients’ geographic proximity to hospital often determines who coordinates care. The existence and characteristics of phases in SMA was divisive, although focus was on ventilation, nutrition, and mobility. Many HCPs are involved in patient care, with community support being essential, however, HCPs were not able to report on palliative care and personal social services. The challenges faced by HCPs in SMA are numerous and include lack of resources and lack of effective treatment. HCP reports underline the complexity of treatment coordination for SMA, between hospitals and communities. Management is focused on ventilation, feeding and mobility, with involvement of a large number of HCPs. A comprehensive SMA care model is needed.