596PReal-life experience with risdiplam in a Brazilian spinal muscular atrophy cohort followed for up to 9 months

Abstract

Spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by muscle weakness and wasting due to motor neuron degeneration. It may present anywhere from birth up to adult life. Risdiplam is an oral splicing modifier of SMN2 which has been approved to treat these patients. Real-life data on Risdiplam beyond European and North American cohorts are scarce. To describe the real-life experience with Risdiplam in a Brazilian cohort of patients with SMA and mixed phenotypes. This is a prospective collection of data from all patients with SMA treated with Risdiplam at the University of Campinas (UNICAMP) since xx2023. All subjects on treatment for at least 11 months were included. Clinical efficacy was assessed using the CHOP-INTEND and/or HFMSE scales performed every 3 months after therapy was started. There were 20 patients (11 male and 9 female). Mean age was 23.7 years (ranging from 6 to 60 years). According to the phenotypes, there were 4 with SMA type 1, 13 with SMA type 2 and 3 with SMA type 3. Clinical scores remained stable in 4 patients and improved in the remaining 16 patients. The extent of improvement varied from xx 11,11 to xx 33,33 %. None of the patients had motor function decline. Among those with stable scores, there were xx 04 with SMA type 2 and xx 01 with SMA type 3, whereas among those who improved, there were 4 with SMA type 1, 10 with SMA type 2 and 2 with SMA type 3. Risdiplam was well tolerated in all patients. Even in this short-term follow-up, we were able to show that Risdiplam led to clinical improvements in most patients treated in this cohort.

Publication
Neuromuscular Disorders

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