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  Longitudinal characterization of biomarkers for spinal muscular atrophy

Bonati, U., Holiga, Š., Hellbach, N., Risterucci, C., Bergauer, T., Tang, W., et al. (2017). Longitudinal characterization of biomarkers for spinal muscular atrophy. Annals of Clinical and Translational Neurology, 4(5), 292-304. doi:10.1002/acn3.406.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0002-E441-3 Version Permalink: http://hdl.handle.net/21.11116/0000-0004-F32E-7
Genre: Journal Article

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 Creators:
Bonati, Ulrike 1, Author
Holiga, Štefan1, 2, Author              
Hellbach, Nicole 1, Author
Risterucci, Celine 1, Author
Bergauer, Tobias 1, Author
Tang, Wakana 1, Author
Hafner, Patricia 1, Author
Thoeni, Alain 1, Author
Bieri, Oliver 1, Author
Gerlach, Irene 1, Author
Marque, Anne 1, Author
Khwaja, Omar 1, Author
Sambataro, Fabio 1, Author
Bertolino, Alessandro 1, Author
Dukart, Juergen 1, Author
Fischmann, Arne 1, Author
Fischer, Dirk 1, Author
Czech, Christian 1, Author
Affiliations:
1External Organizations, ou_persistent22              
2Methods and Development Unit Nuclear Magnetic Resonance, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634558              

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 Abstract: Objective Recent advances in understanding Spinal Muscular Atrophy (SMA) etiopathogenesis prompted development of potent intervention strategies and raised need for sensitive outcome measures capable of assessing disease progression and response to treatment. Several biomarkers have been proposed; nevertheless, no general consensus has been reached on the most feasible ones. We observed a wide range of measures over 1 year to assess their ability to monitor the disease status and progression. Methods 18 SMA patients and 19 healthy volunteers (HV) were followed in this 52‐weeks observational study. Quantitative‐MRI (qMRI) of both thighs and clinical evaluation of motor function was performed at baseline, 6, 9 and 12 months follow‐up. Blood samples were taken in patients for molecular characterization at screening, 9 and 12 month follow‐up. Progression, responsiveness and reliability of collected indices were quantified. Correlation analysis was performed to test for potential associations. Results QMRI indices, clinical scales and molecular measures showed high to excellent reliability. Significant differences were found between qMRI of SMA patients and HV. Significant associations were revealed between multiple qMRI measures and functional clinical scales. None of the qMRI, clinical, or molecular measures was able to detect significant disease progression over 1 year. Interpretation We probed a variety of quantitative measures for SMA in a slowly‐progressing disease population over 1 year. The presented measures demonstrated potential to provide a closer link to underlying disease biology as compared to conventional functional scales. The proposed biomarker framework can guide implementation of more sensitive endpoints in future clinical trials and prove their utility in search for novel disease‐modifying therapies.

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Language(s): eng - English
 Dates: 2017-02-132017-03-052017-04-112017-05
 Publication Status: Published in print
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 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1002/acn3.406
PMID: 28491897
PMC: PMC5420809
Other: eCollection 2017
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Funding organization : F. Hoffmann‐La Roche AG

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Title: Annals of Clinical and Translational Neurology
Source Genre: Journal
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Publ. Info: Chichester : Wiley
Pages: - Volume / Issue: 4 (5) Sequence Number: - Start / End Page: 292 - 304 Identifier: ISSN: 2328-9503
CoNE: https://pure.mpg.de/cone/journals/resource/2328-9503