Source:  

Darras
BT
,
Masson
R
,
Mazurkiewicz-Bełdzińska
M
, et al
.
Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls
.
N Engl J Med
.
2021
;
385
(
5
):
427
435
; doi:
10.1056/NEJMoa2102047

Investigators from multiple institutions conducted a prospective open-label study on the effectiveness of risdiplam for treatment of infants with type 1 spinal muscular atrophy (SMA). Risdiplam is an orally administered small molecule that modifies SMN2 pre-messenger RNA splicing and increases levels of functional survival of motor neuron protein in blood. Study participants were infants 1–7 months old with type 1 SMA who were enrolled at 14 centers in 10 countries. Eligibility criteria included a genetic diagnosis of 5q SMA, onset of symptoms between 28 days and 3 months of age, and 2 copies of SMN2. Study children ≥5 months old received oral risdiplam, 0.2 mg/kg...

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