Cost-Effectiveness Analysis of Newborn Screening for Spinal Muscular Atrophy in Italy.

ABSTRACT: BACKGROUND AND OBJECTIVE: Untreated spinal muscular atrophy (SMA) is the leading genetic cause of death in children younger than 2 years of age. Early detection through newborn screening allows for presymptomatic diagnosis and treatment of SMA. With effective treatments available and reimbursed by the National Health Service, many regions in Italy are implementing newborn screening for SMA. We evaluated the cost effectiveness of universal newborn screening for SMA in Italy.

Methods

A decision-analytic model assessed the cost effectiveness of newborn screening from the National Health Service perspective in 400,000 newborns. Newborn screening enabling early identification and presymptomatic treatment of SMA was compared with no newborn screening, symptomatic diagnosis, and treatment.

SUBMITTER: Ghetti G 

PROVIDER: S-EPMC11455709 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature