Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening
Trollmann R, Johannsen J, Vill K, Köhler C, Hahn A, Illsinger S, Pechmann A, Hagen Mvd, Müller-Felber W (2024)
Publication Type: Journal article
Publication year: 2024
Journal
Book Volume: 19
Article Number: 353
Journal Issue: 1
DOI: 10.1186/s13023-024-03362-z
Abstract
Background: The introduction of newborn screening (NBS) for spinal muscular atrophy (SMA) has increased the early diagnosis of 5q-associated SMA in presymptomatic and symptomatic preterm infants. National and international recommendations for treating preterms and newborns < 38 weeks of gestational age are unavailable. Our retrospective multicentre study aimed to evaluate the postnatal clinical course of preterm infants with 5q-associated SMA diagnosed since the implementation of NBS in Germany in 2021 and to summarize the German experience regarding the decision-making process for available treatment regimens for preterm infants with ≤ 3 survival of motor neuron 2 (SMN2) copies. Results: Twelve preterm infants with 5q-associated SMA and a mean gestational age of 34.0 weeks (range: 26.1–36.8) and birth weight of 2022 g (range: 645–3370) were reported from 8/20 German SMA NBS follow-up centers using a pseudonymized questionnaire. Confirmatory diagnosis, including SMN2 copy number, was completed on average on postnatal day 13. All patients had a biallelic deletion of exon 7 or exons 7 and 8 of the survival of motor neuron 1 (SMN1) gene, with SMN2 copy numbers of two in 10 patients and three in two patients. The neonatal course was complicated by respiratory distress due to prematurity (n = 2), sepsis (n = 2), and jaundice (n = 2). At birth, 11 preterm infants (91.6%) were presymptomatic. However, the neurological status of one patient deteriorated at five weeks of age (postconceptional age of 41.8 weeks) prior to the start of treatment. Disease-modifying treatments were initiated in all patients at a mean postconceptional age of 38.8 weeks, with the majority receiving onasemnogene abeparvovec (83.3%, including 2 patients with prior risdiplam bridge therapy). Notably, consensus among participating experts from German neuromuscular centers resulted in 83.3% of patients receiving disease-modifying treatment at term. Conclusions: Premature infants with SMA require interdisciplinary care in close collaboration with the neuromuscular center. SMA NBS facilitates early initiation of disease-modifying therapy, ideally during the presymptomatic phase, which significantly influences the prognosis of the newborn.
Authors with CRIS profile
Involved external institutions
Universitätsklinikum Hamburg-Eppendorf (UKE)
Germany (DE)
Klinikum der Universität München
Germany (DE)
Katholisches Klinikum Bochum (St. Josef- und St. Elisabeth-Hospital gGmbH)
Germany (DE)
Justus-Liebig-Universität Gießen
Germany (DE)
Medizinische Hochschule Hannover (MHH) / Hannover Medical School
Germany (DE)
Universitätsklinikum Freiburg
Germany (DE)
Universitätsklinikum Carl Gustav Carus Dresden
Germany (DE)
Germany (DE)
Klinikum der Universität München
Germany (DE)
Katholisches Klinikum Bochum (St. Josef- und St. Elisabeth-Hospital gGmbH)
Germany (DE)
Justus-Liebig-Universität Gießen
Germany (DE)
Medizinische Hochschule Hannover (MHH) / Hannover Medical School
Germany (DE)
Universitätsklinikum Freiburg
Germany (DE)
Universitätsklinikum Carl Gustav Carus Dresden
Germany (DE)
How to cite
APA:
Trollmann, R., Johannsen, J., Vill, K., Köhler, C., Hahn, A., Illsinger, S.,... Müller-Felber, W. (2024). Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening. Orphanet Journal of Rare Diseases, 19(1). https://doi.org/10.1186/s13023-024-03362-z
MLA:
Trollmann, Regina, et al. "Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening." Orphanet Journal of Rare Diseases 19.1 (2024).
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