Monitoring spinal muscular atrophy with three-dimensional optoacoustic imaging
Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - year:2024 |
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| Enthalten in: |
Med (New York, N.Y.) - (2024) vom: 18. März |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Nedoschill, Emmanuel [VerfasserIn] |
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| Links: |
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| Themen: |
Gene therapy |
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| Anmerkungen: |
Date Revised 26.03.2024 published: Print-Electronic ClinicalTrials.gov: NCT04115475 Citation Status Publisher |
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| doi: |
10.1016/j.medj.2024.02.010 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM370209109 |
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| 100 | 1 | |a Nedoschill, Emmanuel |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Monitoring spinal muscular atrophy with three-dimensional optoacoustic imaging |
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| 500 | |a ClinicalTrials.gov: NCT04115475 | ||
| 500 | |a Citation Status Publisher | ||
| 520 | |a Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved. | ||
| 520 | |a 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 | ||
| 520 | |a 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) | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Translation to patients | |
| 650 | 4 | |a gene therapy | |
| 650 | 4 | |a non-invasive imaging | |
| 650 | 4 | |a optoacoustic imaging | |
| 650 | 4 | |a pediatric spinal muscular atrophy | |
| 650 | 4 | |a photoacoustic imaging | |
| 650 | 4 | |a spinal muscular atrophy | |
| 700 | 1 | |a Wagner, Alexandra L |e verfasserin |4 aut | |
| 700 | 1 | |a Danko, Vera |e verfasserin |4 aut | |
| 700 | 1 | |a Buehler, Adrian |e verfasserin |4 aut | |
| 700 | 1 | |a Raming, Roman |e verfasserin |4 aut | |
| 700 | 1 | |a Jüngert, Jörg |e verfasserin |4 aut | |
| 700 | 1 | |a Neurath, Markus F |e verfasserin |4 aut | |
| 700 | 1 | |a Waldner, Maximilian J |e verfasserin |4 aut | |
| 700 | 1 | |a Rother, Ulrich |e verfasserin |4 aut | |
| 700 | 1 | |a Woelfle, Joachim |e verfasserin |4 aut | |
| 700 | 1 | |a Trollmann, Regina |e verfasserin |4 aut | |
| 700 | 1 | |a Knieling, Ferdinand |e verfasserin |4 aut | |
| 700 | 1 | |a Regensburger, Adrian P |e verfasserin |4 aut | |
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