Lancet Neurol: How effective and safe is gene replacement therapy for infant symptomatic spinal muscular atrophy type 1?

Spinal muscular atrophy is a rare autosomal recessive neurological disease.
It is caused by the biallelic loss of function of the survival motor neuron 1 (SMN1) gene, which leads to motor neuron dysfunction and degeneration
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Although the similar SMN2 gene is preserved in spinal muscular atrophy, a full-length SMN protein produced by SMN2 alone is not enough

Spinal muscular atrophy is a rare autosomal recessive neurological disease.

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The effectiveness of SMN targeted therapy significantly improves the prognosis of patients
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Nusinesen US Food and Drug in December 2016 Management Board ( the FDA approved), and in June 2017 approved by the European Medicines Agency (European Medicines Agency), and is outside one kind of intrathecal injection of SMN2 exon 7 Antisense oligonucleotide modulator of splicing

Manage FDA

Onasemnogene abeparvovec (formerly A VXS-101) 10 was approved by the FDA in May 2019 and conditional EMA approval in May 2020.
It is a gene replacement therapy designed to target the genetic causes of spinal muscular atrophy
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With only one intravenous infusion, onasemnogene abeparvovec can deliver human SMN through a self-complementary adeno-associated virus serotype 9 (AA V9) vector, which is driven by a mixed cytomegalovirus enhancer-chicken β-actin promoter.

 Onasemnogene abeparvovec (formerly A VXS-101) 10 was approved by the FDA in May 2019 and conditional EMA approval in May 2020.

STR1VE-EU is a multi-center, single-arm, single-dose, open-label Phase 3 trial in Italy (n=4), the United Kingdom (n=2), Belgium (n=2) and France (n=1) Of 9 locations (hospitals and universities)
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The study recruited patients with type 1 spinal muscular atrophy younger than 6 months (180 days) and common biallelic pathogenic SMN1 exon 7-8 deletions or point mutations, and one or two copies of SMN2

Multicenter, single arm, single dose, open labelMulticenter, single arm, single dose, open label

• From August 16, 2018 to September 11, 2020, 41 patients with spinal muscular atrophy underwent eligibility assessment
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  The median age of using onasemnogene abeparvovec was 4.
  
  STR1VE-EU shows the effect of onasemnogene abeparvovec on infants with type 1 symptomatic spinal muscular atrophy
  
  Mercuri E, Muntoni F, Baranello G, et al.
  
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