1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes. Yet, the absence of reliable biomarkers renders clinical assessment and prognosis of possibly already affected newborns with a positive n...
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
20 October 2021
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| In: |
Orphanet journal of rare diseases
Year: 2021, Jahrgang: 16, Pages: 1-16 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-021-02075-x |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s13023-021-02075-x
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| Verfasserangaben: | Afshin Saffari, Claire Cannet, Astrid Blaschek, Andreas Hahn, Georg F. Hoffmann, Jessika Johannsen, Romy Kirsten, Musa Kockaya, Stefan Kölker, Wolfgang Müller-Felber, Andreas Roos, Hartmut Schäfer, Ulrike Schara, Manfred Spraul, Friedrich K. Trefz, Katharina Vill, Wolfgang Wick, Markus Weiler, Jürgen G. Okun and Andreas Ziegler |
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| 520 | |a 5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes. Yet, the absence of reliable biomarkers renders clinical assessment and prognosis of possibly already affected newborns with a positive newborn screening result for SMA imprecise and difficult. Therapeutic decisions and stratification of individualized therapies remain challenging, especially in symptomatic children. The aim of this proof-of-concept and feasibility study was to explore the value of 1H-nuclear magnetic resonance (NMR)-based metabolic profiling in identifying non-invasive diagnostic and prognostic urinary fingerprints in children and adolescents with SMA. | ||
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