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Updated: Aug 1, 2025
Delivery of Therapeutic Agents Through Intracerebroventricular ICV and Intravenous IV Injection in Mice
Published on: October 3, 2011
Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth
Takaaki Sawada1,2,3, Jun Kido2,3, Yukako Yae4
1Southern Kyushu and Okinawa Unit Center of The Japan Environment and Children's Study, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
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, Patient 1 became bedridden despite receiving gene therapy, while Patient 2 achieved normal motor development.
Discussion:
Our findings show that treatment timing is an essential factor affecting patients' motor neurodevelopmental outcomes, although our patients did have differences in the number of copies of SMN2. Therefore, a system should be established to allow all newborns to undergo publicly funded NBS for SMA.
