A male infant affected by type 0 SMA with one copy of SMN2 received early treatment with Nusinersen at the age of 13 days. He showed mild motor improvement 2 months after treatment started but despite also showing some minimal respiratory improvement, required tracheostomy at the age of 4 months and had increasing cardiac and autonomic dysfunction leading to exitus at 5 months. Our findings, expanding the results available on Nusinersen, confirm its relative efficacy in the most severely affected infants and provide clinical evidence to be used at the time requests for treating severe infants are discussed.
Tiberi, E., Costa, S., Pane, M., Priolo, F., De Sanctis, R., Romeo, D. M., Tiziano, F. D., Conti, G., Vento, G., Mercuri, E. M., Nusinersen in type 0 spinal muscular atrophy: should we treat?, <<ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY>>, 2020; (Nov 4): N/A-N/A. [doi:10.1002/acn3.51126] [http://hdl.handle.net/10807/164455]
Nusinersen in type 0 spinal muscular atrophy: should we treat?
Tiberi, Eloisa;Costa, Simonetta;Pane, Marika;Priolo, Francesca;De Sanctis, Roberto;Romeo, Domenico Marco;Tiziano, Francesco Danilo;Conti, Giorgio;Vento, Giovanni;Mercuri, Eugenio Maria
2020
Abstract
A male infant affected by type 0 SMA with one copy of SMN2 received early treatment with Nusinersen at the age of 13 days. He showed mild motor improvement 2 months after treatment started but despite also showing some minimal respiratory improvement, required tracheostomy at the age of 4 months and had increasing cardiac and autonomic dysfunction leading to exitus at 5 months. Our findings, expanding the results available on Nusinersen, confirm its relative efficacy in the most severely affected infants and provide clinical evidence to be used at the time requests for treating severe infants are discussed.
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