118P Characterization of patients with Type 1 Spinal Muscular Atrophy in advanced disease state treated with Nusinersen

Abstract

There are few reports on the response to Nusinersen therapy in Spinal Muscular Atrophy (SMA) type 1 patients with tracheostomy and in an advanced stage of the disease. We present long term follow-up from two Chilean centers, which collectively manage 94 pediatric patients with SMA on disease-modifying therapies. To describe the motor response to Nusinersen treatment in SMA1 patients with tracheostomy based on the CHOP-INTEND scale. A total of 13 patients were included in the study (SMA type; 1A n= ; 1B n=5; 1C n=3, 7 males (54%), with 12 having 2 copies of the SMN2 gene (92%) and one with 3 copies (8%), all requiring tracheostomy and gastrostomy, 11 of them (85%) were users prior to the start of Nusinersen therapy. Patients had a mean age of 4 months and 2 weeks at diagnosis (range 1 month - 9 months) and an average age of 4 years 1 month (range 1 month and 8 years 5 months) at the start of treatment. Follow-up was performed using the CHOP-INTEND scale. The average follow-up duration for the patients was 4 years and 5 months, from the start of therapy until the present date, until their death or change of therapy, with a range from 1 year and 6 months to 5 years and 4 months. Most patients continued to require tracheostomy and gastrostomy during follow-up. All patients showed improvement on the motor scale, on a variable degree. One patient showed an increase in 44 points and five patients in 10 points or more. One patient experienced adverse effects during treatment. No children discontinued treatment due to adverse events. One patient died during follow-up due to sudden death. All patients with advanced type 1 SMA continued to require tracheostomy and gastrostomy after receiving therapy. All patients showed improvements in the motor scale, but the response varied among patients with significant points and ranges, the majority significant. None without response. Only one patient experienced adverse effects and one died.