Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.

ABSTRACT:

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 infan

SUBMITTER: Pera MC 

PROVIDER: S-EPMC11648170 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature