Outcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study.

ABSTRACT:

Introduction/aims

While prompt identification and treatment of infants with spinal muscular atrophy (SMA) can ameliorate outcomes, variability persists. This study assessed management and outcomes of early-treated infants with SMA.

Methods

We analyzed retrospective data at 12 centers on infants with SMA treated at age ≤6 weeks from August 2018 to December 2023.

Results

Sixty-six patients, 35 with two SMN2 copies and 31 with ≥3 SMN2 copies, were included. Twenty-five (38%, 22 with two SMN2 copies), had SMA findings before initial treatment which was onasemnogene abeparvovec in 47 (71%) and nusinersen in 19 (29%). Thirty-two received sequential or combination treatments, including 16 adding nusinersen or risdiplam due to SMA findings following onasemnogene abeparvovec.

SUBMITTER: Goedeker NL 

PROVIDER: S-EPMC11560615 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature