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. 2023 Jun 29;14(7):1377.
doi: 10.3390/genes14071377.

Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review

Karolina Aragon-Gawinska  1 , Charlotte Mouraux  2 , Tamara Dangouloff  2 , Laurent Servais  2   3
Affiliations

Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review

Karolina Aragon-Gawinska et al. Genes (Basel). .

Abstract

Background: In spinal muscular atrophy, clinical trial results indicated that disease-modifying treatments are highly effective when given prior to symptom onset, which has prompted newborn screening programs in growing number of countries. However, prognosis of those patients cannot be inferred from clinical trials conducted in presymptomatic individuals, as in some cases disease presents very early.

Methods: we conducted a systematic review of articles published up to January 2023.

Results: Among 35 patients with three SMN2 copies treated before 42 days of age and followed-up for at least 18 months, all but one achieved autonomous ambulation. Of 41 patients with two SMN2 copies, who were non-symptomatic at treatment initiation, all achieved a sitting position independently and 31 were able to walk. Of 16 patients with two SMN2 copies followed-up for at least 18 months who presented with symptoms at treatment onset, 3 achieved the walking milestone and all but one were able to sit without support.

Conclusions: evaluation of data from 18 publications indicates that the results of early treatment depend on the number of SMN2 copies and the initial neurological status of the patient.

Keywords: PCR; gene therapy; newborn screening; spinal muscular atrophy.

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Conflict of interest statement

K.A.-G. received travel funding and lecture honoraria from Roche and Biogen. C.M. reports no conflicts of interests. T.D. received lecture honoraria from Roche, Biogen, and Novartis. L.S. is a coordinating investigator of the SMA newborn screening program in Belgium and in the UK, funded by Roche, Novartis, and Biogen. He has consulted for Zentech, Biogen, Novartis, Roche, Scholar Rock, and BioHaven and has received research grants from Zentech and Perkin Elmer.

Figures

Figure 1
Figure 1
PRISMA flow chart for article selection.
Figure 2
Figure 2
Motor development in patients with two copies of SMN2. Subjects presented were treated either in the context of clinical trials or in real-world use ≤42 days of life. Each circle or circle/line represents one patient. For each patient, data are shown in the row corresponding to the highest milestone reached. The position of the filled circle indicates the patient age at the time of the highest milestone achievement, the horizontal line illustrates follow-up time, and a short vertical line shows the age at the last follow-up visit.
Figure 3
Figure 3
Ambulation in treated patients by SMN2 copy number and SMA symptoms at treatment onset. Subjects were treated before 42 days of life and were followed for at least 18 months.
See this image and copyright information in PMC

References

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