High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy.

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.

Informations de copyright

© 2023 Johannsen, Weiss, Driemeyer, Olfe, Stute, Müller, Schütt, Trollmann, Kölbel, Schara-Schmidt, Kirschner, Pechmann, Blaschek, Horber and Denecke.

Déclaration de conflit d'intérêts

JJ received compensation for advisory boards and funding for travel or speaker honoraria from Avex-is/Novartis, Biogen, Roche, PTC, Pfizer and Sarepta Therapeutics. DW received compensation for advi-sory boards and speaker honoraria from Roche. RT received compensation for advisory boards and speaker honoraria from Biogen, Roche, PTC, Desitin, Eisai. HK is serving on a scientific advisory board for Avexis and received travel expenses and speaker honoraria from Biogen, Pfizer, Roche and Sanofi-Aventis. US received compensation for Adboard meetings from Novartis / Avexis, Biogen and Roche and invited talks and industry symposia from Novartis / Avexis, Biogen and Roche. JK received compensation for advisory boards, training activities and research grants from Biogen, Novartis, Pfizer, PTC and Roche. AP received compensation for advisory boards, training activities and research grants from Novartis and Biogen. AB received compensation for advisory boards and funding for travel or speaker honoraria from Avexis/Novartis, Roche. VH received compensation for advisory boards and workshops from Avexis/Novartis and Biogen. JDe received speaker honoraria from Biogen and Roche. JDR, JO, FS, FM and MS have no declarations of interests. The remaining author declares that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.