Initial studies for nusinersen in the treatment of SMA demonstrated that early treatment prevented the need for invasive ventilation and increased attainment of milestones. While there is literature on improved strength in older ventilator and gastrostomy tube dependent SMA patients, there is no information on (1) ability to sprint off the ventilator, (2) ability to start using spoken language, (3) ability for oral feeding, (4) ability to tolerate a stander, and (5) ability to tolerate a seated position. There are no current guidelines for rehabilitative or respiratory therapy for SMA patients on nusinersen. We have been treating 7 international SMA1 patients in the inpatient setting for the past year. They have received daily intensive physical, occupational, speech, respiratory, and feeding therapies. We also administer nusinersen to approximately 40 outpatient pediatric patients. Nearly all receive only intermittent therapies. Respiratory therapy is not typically done. 

6 out of 7 international patients are able to sprint off the ventilator. The longest sprinting time is about 8 hours. There has been overall improvement in functional motor scales (HINE, CHOP-INTEND). Our international patients have been vocalizing and tolerating oral feeds for the first time. In comparison, our outpatient SMA1 patients are not clinically doing as well.

Our inpatient aggressive rehabilitation program together with nusinersen treatment in our international cohort has resulted in improved function in multiple domains.  Our results would have implications for domestic outpatient treatment of SMA1; namely increased frequency of intensive ancillary therapies.