Project Lead: Claudia Wild
Authors: Doris Giess, Judit Erdös, Claudia Wild
Publication: November 2023
Language: English (with German summary)
Since 2017, three therapies have been approved by the FDA and EMA for the treatment of SMA patients: The results show clinically relevant improvements in motor skills in SMA type 1 patients, especially in patients with early treatment initiation and >=2 SMN2 copies, as well as stabilisation of health status in SMA type 2 to 4 patients. In all studies reporting these outcomes, no significant improvements in respiratory and nutritional function were recorded regardless of SMA type and therapy used, with most studies reporting no change or an increase in the need for ventilation and nutritional support.
20 observational studies and 1 RCT were included in the synthesis, reporting on a total of 1,374 patients. 15 studies investigated nusinersen in 948 patients, one study was identified on onasmenogene abeparvovec and investigated 12 patients, and two studies investigated risdiplam in 221 patients. 193 patients received combination therapy.