Children born with spinal muscular atrophy from 2016 on are living longer

Key takeaways:

• At the time of last follow up, 82.6% of children born with SMA type 1 from 2016 on were still alive.
• Of the 140 type 1 SMA births between January 2010 and December 2015, 69% died as of the last follow up.

Disease-modifying therapies introduced in Italy led to better outcomes and survival rates in children born after 2016 with type 1 spinal muscular atrophy compared with those born prior to then, new data published in EClinicalMedicine show.

“Recent natural history studies performed in the years before the advent of the new therapies reported that survival at 2 years was less than 8%,” Maria Carmela Pera, of the pediatric neurology department of the Catholic University of the Sacred Heart in Rome, and colleagues wrote. “These and other studies also report that for subjects surviving beyond the age of 1 year, there is a nearly invariable need for permanent nutritional and respiratory support.”

As the emergence of disease-modifying treatments (DMTs) has improved the outlook for those diagnosed with spinal muscular atrophy (SMA), the researchers sought to learn more about functional outcomes and survival rates among Italian children born with type I SMA since 2016.

Their study included 247 children with the neuromuscular condition seen in 33 centers across Italy, born from Jan. 1, 2016, onward, with 241 classified as type 1 carriers.

For comparison, the researchers included similar data from patients with type 1 SMA born from January 2010 through December 2015.

According to the results, by the time of the last follow up, 199 of 241 patients with type 1 SMA were still alive (mean age, 4.04 years), with the remaining 25 needing ventilation lasting fewer than 16 hours per day or requiring a tracheostomy with ventilation assist.

Of the 42 patients with type 1 SMA who did not survive, data show that 17 received DMTs and 25 did not. The causes of death for all deceased children were related to respiratory failure. Of the remaining six children with type 0 SMA, only one, who was treated with nusinersen at 30 days old, was alive.

The researchers also reported that 130 of the 199 survivors (65%) achieved independent sitting and 175 of 199 (87.9%) no longer required feeding by tube.

Among the comparison group of 140 type 1 SMA births between January 2010 and December 2015, 97 (69%) died, with 40 others reporting survival with ventilation lasting fewer than 16 hours a day or a tracheostomy with ventilation assist.

“Further follow-up will allow to obtain long-term data for infants treated with the individual drugs and to establish possible differences between individual therapies and possible combinations or associations that are becoming increasingly frequent,” Pera and colleagues wrote.