Projet Lead: Claudia Wild
Authors: Judit Erdös, Claudia Wild, Ozren Sehic
Publication: September 2021
Language: German (with English summary)
Since 2017, the Food and Drug Administration (FDA) and the European Medicines Agency (EMA) have approved three drugs for the treatment of SMA. Results of the pivotal trials showed clinically meaningful improvements (MCID) in motor skills in SMA type 1 (especially those with early treatment initiation and >=2 SMN2 copies), as well as a stabilisation of health status in SMA type 2 to 4 patients. In SMA type 1 patients, while motor skills improved, no changes (sometimes even a deterioration) in the need for ventilation and nutritional support could be observed. The present report aims to synthesize the evidence on mid- and long-term (>= 12 months) follow-up of the approved drugs as monotherapies or as combination therapies.
Twenty-two observational studies were included for analysing mid- and long-term outcomes. The included studies reported on 840 SMA patients, of which 289 SMA type 1 patients and 521 SMA type 2 to 4 patients were treated with nusinersen, only 12 SMA type 1 patients with onasemnogene abeparvovec and 18 SMA type 1 patients received a combination therapy.