医学
脊髓性肌萎缩
萎缩
病理
疾病
前瞻性队列研究
心脏病学
内科学
放射科
作者
Emmanuel Nedoschill,Alexandra L. Wagner,Vera Danko,Adrian Buehler,Roman Raming,Jörg Jüngert,Markus F. Neurath,Maximilian J. Waldner,Ulrich Rother,Joachim Woelfle,Regina Trollmann,Ferdinand Knieling,Adrian P. Regensburger
出处
期刊:Med
[Elsevier]
日期:2024-03-01
标识
DOI:10.1016/j.medj.2024.02.010
摘要
Summary
Background
Spinal muscular atrophy is a progressive neuromuscular disorder and among the most frequent genetic causes of infant mortality. While recent advancements in gene therapy provide the potential to ameliorate the disease severity, there is currently no modality in clinical use to visualize dynamic pathophysiological changes in disease progression and regression after therapy. Methods
In this prospective diagnostic clinical study, ten pediatric patients with spinal muscular atrophy and ten age- and sex-matched controls have been examined with three-dimensional optoacoustic imaging and clinical standard examinations to compare the spectral profile of muscle tissue and correlate it with motor function (ClinicalTrials.gov: NCT04115475). Findings
We observed a reduced optoacoustic signal in muscle tissue of pediatric patients with spinal muscular atrophy. The reduction in signal intensity correlated with disease severity as assessed by grayscale ultrasound and standard motor function tests. In a cohort of patients who received disease-modifying therapy prior to the study, the optoacoustic signal intensity was similar to healthy controls. Conclusions
This translational study provides early evidence that three-dimensional optoacoustic imaging could have clinical implications in monitoring disease activity in spinal muscular atrophy. By visualizing and quantifying molecular changes in muscle tissue, disease progression and effects of gene therapy can be assessed in real time. Funding
The project was funded by ELAN Fonds (P055) at the University Hospital of the Friedrich-Alexander-Universität (FAU) Erlangen-Nurnberg to A.P.R.
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