Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.

ABSTRACT:

Importance

There is increasing evidence that early diagnosis and treatment are key for outcomes in infants with spinal muscular atrophy (SMA), and newborn screening programs have been implemented to detect the disease before onset of symptoms. However, data from controlled studies that reliably confirm the benefits of newborn screening are lacking.

Objective

To compare data obtained on patients with SMA diagnosed through newborn screening and those diagnosed after clinical symptom onset.

Design, setting, and participants

This nonrandomized controlled trial used data from the SMARTCARE registry to evaluate all children born between January 2018 and September 2021 with genetically confirmed SMA and up to 3 SMN2 copies. The registry includes data from 70 participating ce

SUBMITTER: Schwartz O 

PROVIDER: S-EPMC11002769 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature