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Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016
Maria Carmela Pera1,2, Giorgia Coratti1,2, Marika Pane1,2
1Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Insights
Disease-modifying treatments (DMT) significantly improve survival and function in Italian infants with type I Spinal Muscular Atrophy (SMA). The new therapies are redefining the natural history of this condition, offering better outcomes for affected children.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- 5q Spinal Muscular Atrophy (SMA) is a rare genetic disorder affecting motor neurons.
- Disease-modifying treatments (DMT) have emerged, altering the natural course of SMA.
- Type I SMA is the most severe form, typically diagnosed in infancy.
Purpose of the Study:
- To evaluate the survival and functional outcomes of Italian children with type I SMA born after the introduction of DMTs.
- To compare these outcomes with historical data from before DMT availability.
Main Methods:
- Retrospective analysis of symptomatic infants with type I SMA born since January 1st, 2016, in Italian SMA referral centers.
- Inclusion of historical data from SMA type I patients born between 2010 and 2015 for comparison.
- Statistical comparison using a two-proportion z-test (p < 0.05).
Main Results:
- 241 infants with type I SMA were included; 42/241 did not survive (25 untreated).
- 199 survivors (all treated) showed improved motor (65% independent sitting), respiratory, and nutritional status (87.9% no tube feeding).
- Mean follow-up was 3.48 years, with a mean treatment age of 0.6 years for survivors.
Conclusions:
- DMTs have significantly improved survival rates in type I SMA.
- The 'new natural history' of type I SMA is characterized by longer survival and better functional, respiratory, and nutritional status.
- Early treatment initiation is crucial for optimal outcomes in type I SMA.
Background:
The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.
Methods:
The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy. All the Italian SMA referral centers provided data on survival and motor, respiratory, and nutritional status. To compare survival rate pre and post DMTs approval, we also included similar data from SMA I patients born between January 1st, 2010, and December 31st, 2015. A two-proportion z-test was conducted to compare the two cohorts. The significance level was set at p < .05.
Findings:
241 infants (98%) had type I SMA. Mean follow-up was 3.48 years (SD 2.33). Among type I patients, 42/241 did not survive (25 untreated), while 199 were alive at last follow-up (all treated; mean treatment age 0.6 years), with 25 needing >16 h/day ventilation or tracheostomy with continuous invasive ventilation. 130 of the 199 survivors (65%) achieved independent sitting, and 175 (87.9%) did not require tube feeding.
Interpretation:
Our study provides a picture of the 'new natural history' of type I SMA, confirming the impact of the new therapies on the progression of type I with longer survival r and has better motor, respiratory and nutritional.
Funding:
This research was partially funded by grants from the Italian Ministry of Health.
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