학술논문
Monitoring spinal muscular atrophy with three-dimensional optoacoustic imaging.
Document Type
Academic Journal
Author
Nedoschill E; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany.; Wagner AL; Department of Pediatric Neurology, Center for Chronically Sick Children, Charité Berlin, Berlin, Germany.; Danko V; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany.; Buehler A; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany.; Raming R; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany.; Jüngert J; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany.; Neurath MF; Medical Department 1, University Hospital Erlangen, Erlangen, Germany.; Waldner MJ; Medical Department 1, University Hospital Erlangen, Erlangen, Germany.; Rother U; Department of Vascular Surgery, University Hospital Erlangen, Erlangen, Germany.; Woelfle J; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany.; Trollmann R; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany.; Knieling F; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany.; Regensburger AP; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany. Electronic address: adrian.regensburger@uk-erlangen.de.
Source
Publisher: Cell Press Country of Publication: United States NLM ID: 101769215 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-6340 (Electronic) Linking ISSN: 26666340 NLM ISO Abbreviation: Med Subsets: MEDLINE
Subject
Language
English
Abstract
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.
Competing Interests: Declaration of interests M.J.W., F.K., and A.P.R. are shared patent holders with iThera Medical GmbH (Munich, Germany) on the OAI system/software described in the study. F.K. and U.R. are members of the clinical advisory board of iThera Medical GmbH (Munich, Germany).
(Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)
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.
Competing Interests: Declaration of interests M.J.W., F.K., and A.P.R. are shared patent holders with iThera Medical GmbH (Munich, Germany) on the OAI system/software described in the study. F.K. and U.R. are members of the clinical advisory board of iThera Medical GmbH (Munich, Germany).
(Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)