Spinal muscular atrophy (SMA): gene therapy

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Spinal muscular atrophy (SMA): gene therapy. This is an antisense oligonucleotide (ASO). It alters SMN2 splicing. Fully referenced neurology checklist.

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

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Risdiplam

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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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