Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth.

ABSTRACT:

Introduction

Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by muscle atrophy and progressive muscle weakness. Insurance-approved treatments in Japan include antisense oligonucleotide therapy, gene therapy, and small molecule therapy. The efficacy of these therapies varies depending on the timing of treatment initiation.

Case presentation

We report the cases of two infants with SMA born in the same region. Patient 1, who had two copies of SMN2, was born before newborn screening (NBS) was started and received onasemnogene abeparvovec therapy at the age of 4 months. Patient 2, who had three copies of SMN2, was born after the start of NBS and was diagnosed and treated with onasemnogene abeparvovec before symptoms appeared. Unfortunately, Pa

SUBMITTER: Sawada T 

PROVIDER: S-EPMC10113830 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature