119P Evaluation of physical function before and after medical treatment in patients with Spinal Muscular Atrophy aged 11-25 years

Abstract

Medical treatment for 5q spinal muscular atrophy (SMA) is now standard treatment in many countries, and a growing number of studies report on improvement or stabilization in physical function as a result of medical treatment. Different countries have different practices regarding the target group for medical treatment. Age and level of function have been decisive criteria for receiving the treatment. Until July 2023, the Danish medical council had approved initiation of medical treatment for children up to 10 years of age, and during the spring of 2023 it were to be determined whether the patient target group could be expanded. Based on this potential expansion, the aim of the study was to evaluate the current physical functioning in a national cohort of patients > 10 years and – in case treatment was approved – to repeat the evaluation six month after initiation of treatment. Due to the size of the target group (n=136) and the narrow time frame it was decided to narrow the target group to non-ambulant patients and perform the evaluation online. The evaluation included two items from the revised upper limb scale (RULM) (lift hands, pick up and hold coins), the EK2-scale (17 items), Fatigue Severity Scale (7 items), a brief questionnaire on patient expectations before treatment and an online interview about experiences after initiation of treatment. 57 patients accepted the invitation, answered the questionnaire, and were examined online during the spring of 2023. In July 2023, the Danish medical council decided to expand the target group to patients up to 25 years of age. 11/57 patients met the new criteria and accepted treatment. Follow-up examinations of these patients are ongoing. Results will be reported on the poster.