Key result
Newborns with spinal muscular atrophy had a median hs-cTnI concentration of 39.5 ng/L, which frequently exceeded adult-derived reference limits but was similar to levels observed in neonates without SMA.
Why the study?
Hs-cTnI is used to monitor potential cardiotoxicity from gene replacement therapy in spinal muscular atrophy, but reference data are limited in healthy newborns and lacking in neonates with SMA.
What is the baseline range of high-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns with spinal muscular atrophy?
Observational (n=46)
Yes
What is the baseline range of high-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns with spinal muscular atrophy?
Newborns with and without SMA frequently have hs-cTnI levels above adult reference limits, highlighting the need for individualized baseline assessment before initiating potentially cardiotoxic gene replacement therapy.
Elevated hs-cTnI is common in neonates irrespective of SMA status; leaves open the need for age-specific reference limits before gene therapy.
Background: Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease leading to muscular weakness and premature death. Three therapeutic options are currently available including gene replacement therapy (GRT), which is potentially cardiotoxic. High-sensitive cardiac troponin I (hs-cTnI) is widely used to monitor potential cardiac contraindications or side effects of GRT, but reference data in healthy newborns are limited and lacking in neonates with SMA. The aim of this study is to determine the range of pre-therapeutic hs-cTnI concentrations in neonates with SMA and to provide guidance for the assessment of these values. Methods: Hs-cTnI levels, genetic and clinical data of 30 newborns (age range 2-26 days) with SMA were retrospectively collected from 6 German neuromuscular centers. In addition, hs-cTnI levels were measured in 16 neonates without SMA. Results: The median hs-cTnI concentration in neonates with SMA was 39.5 ng/L (range: 4-1205). In 16 newborns with SMA, hs-cTnI levels were above the test-specific upper reference limit (URL). Exploratory statistical analysis revealed no relevant correlation between hs-cTnI levels and gender, gestational age, mode of delivery, SMN2 copy number, symptoms of SMA or abnormal cardiac findings. Discussion: Our results suggest higher hs-cTnI plasma levels in newborns with and without SMA compared to assay-specific reference values generated in adults. Given the wide range of hs-cTnI values in neonates with SMA, hs-cTnI levels must be determined before treatment in each patient and post-treatment elevations should be interpreted in the context of the course rather than as individual values.
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Johannsen et al. (2023) conducted an observational in Spinal muscular atrophy (n=46). Spinal muscular atrophy vs. Neonates without SMA was evaluated on Median hs-cTnI concentration (ng/L). Newborns with spinal muscular atrophy had a median hs-cTnI concentration of 39.5 ng/L, which frequently exceeded adult-derived reference limits but was similar to levels observed in neonates without SMA.
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