Spinal muscular atrophy (SMA): gene therapy

Evidence-based neurology checklist on spinal muscular atrophy (sma): gene therapy: Nusinersen This is an antisense oligonucleotide (ASO) It alters SMN2 splicing It increases the amount of functional survival motor neuron (SMN) protein It is mainly indicated in infants and children It is…

Nusinersen

  • This is an antisense oligonucleotide (ASO)
  • It alters SMN2 splicing
  • It increases the amount of functional survival motor neuron (SMN) protein
  • It is mainly indicated in infants and children
  • It is administered intrathecally
  • The best outcomes correlate with early treatment
  • It does not stop the progression of scoliosis
  • It has a favourable long-term benefit-risk profile
  • Adverse effects are post lumbar puncture headache, meningitis, recurrent pneumonia and proteinuria

Onasemnogene abeparvovec

Risdiplam

References

  1. Finkel RS, Mercuri E, Darras BT, et al; ENDEAR Study Group. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med 2017; 377:1723-1732. 
  2. Finkel RS, Chiriboga CA, Vajsar J, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet 2016; 388:3017-3026. 
  3. Chiriboga CA, Swoboda KJ, Darras BT, et al. Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy. Neurology 2016; 86:890-897.
  4. Gidaro T, Servais L. Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. Dev Med Child Neurol 2019; 61:19-24.
  5. Moshe-Lilie O, Visser A, Chahin N, Ragole T, Dimitrova D, Karam C. Nusinersen in adult patients with spinal muscular atrophy: observations from a single center. Neurology 2020; 95:e413-e416.
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