Nusinersen Treatment in Adults with SMA - the First Year Experience at a Large Center (S5.007)

Objective: To report our experience with Nusinersen in adult patients with SMA. Background: Spinal muscular atrophy (SMA) is a rare genetic disease characterized by degeneration of motor neurons, leading to progressive muscle atrophy and weakness with onset from infancy to adult life. Nusinersen, a novel antisense treatment, is effective in children but was not tested in in the slower progressive patients who reach adulthood. Nevertheless, it was approved recently for all SMA and added to the Israel health care basket in January 2018. Design/Methods: Since February 2018 we administer Nusinersen to adult SMA patients. All patients perform a pre-treatment evaluation that includes the Revised Hammersmith Scale (RHS), manual muscle testing in 20 muscle groups and respiratory function tests. Serum, DNA and CSF samples are collected after informed consent. Treatment is administered intrathecally at baseline, after 2, 4, 8 weeks and every 4 months thereafter. Results: 10 patients with SMA2 and 13 with SMA3, aged 21–62 years (mean 39), started treatment. Their pre-treatment RHS score was 1-61/69 (median 24), FEV1 25–113% (median 89%). At the time of writing, all patients finished the 10 weeks’ induction and 11 had a second evaluation 6 months after treatment onset. 7 of them showed an improvement of their RHS scores by 1–6 points. In two patients without spinal fixation non-guided injection failed due to severe scoliosis. One of them and 4 patients with spinal fixation were injected with CT guidance. The only side effect reported was post-lumbar puncture headache. Conclusions: We present baseline assessments and early follow-up with Nusinersen in a large cohort of adults with SMA. 10-months follow-up will be presented at the meeting. Longer follow-up is needed to determine the efficacy of Nusinersen in this population, but the preliminary results are encouraging. Disclosure: Dr. Drory has nothing to disclose. Dr. Feinmesser has nothing to disclose. Dr. Abraham has nothing to disclose. Dr. Vainer has nothing to disclose. Dr. Lavon has nothing to disclose. Dr. Nefussy has nothing to disclose.