Key Takeaways:
- By the most recent follow-up, 82.6% of children born with type 1 spinal muscular atrophy (SMA) after 2016 were still alive.
- Of the 140 children with type 1 SMA born between 2010 and 2015, 69% had died by the time of the last follow-up.
- The introduction of disease-modifying therapies (DMTs) in Italy significantly improved survival and outcomes for children with type 1 SMA born after 2016 compared to those born earlier.
Study Overview:
Research published in EClinicalMedicine highlights the improved survival rates and outcomes for children born with type 1 SMA after 2016, coinciding with the availability of DMTs.
According to Maria Carmela Pera and colleagues from the Catholic University of the Sacred Heart in Rome, historical data prior to the availability of DMTs showed that fewer than 8% of children with type 1 SMA survived beyond age 2. Furthermore, those surviving past 1 year often required permanent nutritional and respiratory support.
Study Details and Findings:
The study analyzed 247 children born with SMA in Italy after January 2016, with 241 identified as type 1 SMA cases. Outcomes from this group were compared with data from 140 children born between 2010 and 2015.
Post-2016 Group:
- By the latest follow-up, 199 of the 241 type 1 SMA children were alive (mean age: 4.04 years).
- 25 surviving children required ventilation for fewer than 16 hours per day or had a tracheostomy with ventilatory support.
- Among survivors:
- 65% (130 of 199) achieved independent sitting.
- 87.9% (175 of 199) no longer needed feeding tubes.
- Among the 42 deceased, 17 had received DMTs, while 25 had not. All deaths were attributed to respiratory failure.
Pre-2016 Group:
- Of 140 children born with type 1 SMA between 2010 and 2015, 69% (97) had died by follow-up.
- Among survivors, 40 required ventilation for fewer than 16 hours daily or needed tracheostomies with ventilatory support.
Additional Findings:
- Among six children with type 0 SMA, only one, who began nusinersen treatment at 30 days old, survived.
Implications and Future Directions:
The findings suggest that DMTs, such as nusinersen, have drastically improved survival and functional outcomes for children with SMA. The researchers emphasize the need for long-term follow-up to compare the efficacy of individual therapies and explore combinations of treatments, which are becoming more common.
Disclosure:
Maria Carmela Pera reports receiving fees from Biogen, Novartis, Roche, and SRL. Further details on disclosures are available in the study.
