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Case Reports
. 2023 Sep 12:14:1230889.
doi: 10.3389/fneur.2023.1230889. eCollection 2023.

Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment

Elisa Nigro  1 , Eyal Grunebaum  2 , Binita Kamath  3 , Christoph Licht  4 , Caroline Malcolmson  5 , Aamir Jeewa  6 , Craig Campbell  7 , Hugh McMillan  8 , Pranesh Chakraborty  9 , Mark Tarnopolsky  10 , Hernan Gonorazky  1
Affiliations
Case Reports

Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment

Elisa Nigro et al. Front Neurol. .

Abstract

Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder caused by the loss of lower motor neurons leading to progressive muscle weakness and atrophy. With the rise of novel therapies and early diagnosis on newborn screening (NBS), the natural history of SMA has been evolving. Earlier therapeutic interventions can modify disease outcomes and improve survival. The role of treatment in infants born preterm is an important question given the importance of early intervention. In this study, we discuss the case of an infant born at 32 weeks who was diagnosed with SMA on NBS and was treated with Spinraza® (Nusinersen) and Zolgensma® (Onasemnogene abeparvovec-xioi) within the first 2 months of life. With the scarce evidence that currently exists, clinicians should be aware of the efficacy and safety impact of early therapy particularly in the preterm infant.

Keywords: Zolgensma; gene therapy; newborn screening; preterm; spinal muscular atrophy.

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Conflict of interest statement

EN has been a speaker for Biogen, Novartis, and Roche and on the advisory board for Novartis. HG has been a speaker and on the advisory board for Biogen, Novartis, and Roche. CC has been site investigator for Biogen and Roche clinical trials and on advisory board for Biogen, Roche and Novartis. AJ is on an advisory board for Ultragenyx and Merck and has received an unrestricted educational grant from Abbott. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
(A) Alanine transaminase (ALT) was stable post-gene therapy infusion during prednisone and initially elevated upon prednisone wean but later stabilized. (B) Aspartate transaminase (AST) was stable post-gene therapy infusion with prednisone daily. It was initially elevated and then stabilized post-prednisone weaning. (C) Platelet post-gene therapy infusion. There was a typical drop in platelet level post-gene therapy with a nadir at day 7 postinfusion which later recovered.
Figure 2
Figure 2
Motor milestone development. At 4 months of age, he obtained head control, at 8 months, he achieved sitting independently, and at 12 months, he was able to stand with support. Presently, at 20 months of age, he is currently walking short distances, can stand independently, reaches for objects, and has good head control.
Figure 3
Figure 3
Electromyography (1mv/Div; 10 ms/Div) (EMG) with a concentric needle over the left tibialis anterior muscle showing the presence of high-amplitude motor unit potential between 2.5mV and 4mV at 20 months of age. We did not observe any spontaneous activity.
See this image and copyright information in PMC

References

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