Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in
SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads …

In recent years, adeno-associated virus (AAV) has become the most important vector for
central nervous system (CNS) gene therapy. AAV has already shown promising results in …

Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, arises from
survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss. Approved …

Adeno-associated virus (AAV) has emerged as a pivotal delivery tool in clinical gene
therapy owing to its minimal pathogenicity and ability to establish long-term gene expression …

Abstract Introduction/Aims NURTURE (NCT02386553) is an open‐label study of nusinersen
in children (two SMN2 copies, n= 15; three SMN2 copies, n= 10) who initiated treatment in …

Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive
inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the …

Background: In spinal muscular atrophy, clinical trial results indicated that disease-modifying
treatments are highly effective when given prior to symptom onset, which has prompted …

Nuclease-mediated editing of heteroplasmic mitochondrial DNA (mtDNA) seeks to
preferentially cleave and eliminate mutant mtDNA, leaving wild-type genomes to repopulate …

Onasemnogene abeparvovec (Zolgensma®) is a gene therapy approved for the treatment of
spinal muscular atrophy (SMA). Administered as a one-time intravenous infusion …

Rare diseases collectively exact a high toll on society due to their sheer number and overall
prevalence. Their heterogeneity, diversity, and nature pose daunting clinical challenges for …