Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome
Abstract Background It is unclear how changes in quantitative muscle magnetic resonance imaging (MRI) relate to changes in clinical outcome in facioscapulohumeral muscular dystrophy (FSHD), although this information is crucial for optimal use of MRI as imaging biomarker in trials. We therefore asses...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-08-01
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| Series: | Journal of Cachexia, Sarcopenia and Muscle |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jcsm.13250 |
| _version_ | 1797754738374082560 |
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| author | Sanne C.C. Vincenten Karlien Mul Daniël vanAs Julia J. Jansen Linda Heskamp Arend Heerschap Baziel G.M. vanEngelen Nicol C. Voermans |
| author_facet | Sanne C.C. Vincenten Karlien Mul Daniël vanAs Julia J. Jansen Linda Heskamp Arend Heerschap Baziel G.M. vanEngelen Nicol C. Voermans |
| author_sort | Sanne C.C. Vincenten |
| collection | DOAJ |
| description | Abstract Background It is unclear how changes in quantitative muscle magnetic resonance imaging (MRI) relate to changes in clinical outcome in facioscapulohumeral muscular dystrophy (FSHD), although this information is crucial for optimal use of MRI as imaging biomarker in trials. We therefore assessed muscle MRI and clinical outcome measures in a large longitudinal prospective cohort study. Methods All patients were assessed by MRI at baseline and at 5‐year follow‐up, employing 2pt‐Dixon and turbo inversion recovery magnitude (TIRM) sequences, after which fat fraction and TIRM positivity of 19 leg muscles were determined bilaterally. The MRI compound score (CoS) was defined as the mean fat fraction of all muscles weighted for cross‐sectional area. Clinical outcome measures included the Ricci‐score, FSHD clinical score (FSHD‐CS), MRC sumscore (MRC‐SS), and motor‐function‐measure (MFM). Results We included 105 FSHD patients [mean age 54 ± 14 years, median Ricci‐score 7 (range 0–10)]. The median change over 5 years' time in the MRI‐CoS was 2.0% (range −4.6 to +12.1; P < 0.001). The median change over 5 years' time in clinical outcome measures was small in all measures, with z‐scores ranging from 5.0 to 7.2 (P < 0.001). The change in MRI‐CoS correlated with change in FSHD‐CS and Ricci‐score (ρ = 0.25, respectively; ρ = 0.23, P < 0.05). The largest median increase in MRI‐CoS was seen in baseline subgroups with an MRI‐CoS 20–40% (6.1%), with ≥2 TIRM positive muscles (3.5%) or with an FSHD‐CS 5–10 (3.1%). Conclusions This 5‐year study showed significant changes in MRI and clinical outcome measures and a significant correlation between changes in MRI‐CoS and changes in clinical outcome measures. In addition, we identified subgroups of patients that are most prone to radiological disease progression. This knowledge further establishes quantitative MRI parameters as prognostic biomarkers in FSHD and as efficacy biomarkers in upcoming clinical trials. |
| first_indexed | 2024-03-12T17:36:55Z |
| format | Article |
| id | doaj.art-9f75fa9bef2e4cbab604efb78a1219d3 |
| institution | Directory Open Access Journal |
| issn | 2190-5991 2190-6009 |
| language | English |
| last_indexed | 2024-03-12T17:36:55Z |
| publishDate | 2023-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Cachexia, Sarcopenia and Muscle |
| spelling | doaj.art-9f75fa9bef2e4cbab604efb78a1219d32023-08-04T10:07:00ZengWileyJournal of Cachexia, Sarcopenia and Muscle2190-59912190-60092023-08-011441695170610.1002/jcsm.13250Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcomeSanne C.C. Vincenten0Karlien Mul1Daniël vanAs2Julia J. Jansen3Linda Heskamp4Arend Heerschap5Baziel G.M. vanEngelen6Nicol C. Voermans7Donders Institute for Brain, Cognition and Behavior; Department of Neurology Radboud University Medical Center Nijmegen The NetherlandsDonders Institute for Brain, Cognition and Behavior; Department of Neurology Radboud University Medical Center Nijmegen The NetherlandsDonders Institute for Brain, Cognition and Behavior; Department of Neurology Radboud University Medical Center Nijmegen The NetherlandsDonders Institute for Brain, Cognition and Behavior; Department of Neurology Radboud University Medical Center Nijmegen The NetherlandsDepartment of Medical Imaging (766) Radboud University Medical Center Nijmegen The NetherlandsDepartment of Medical Imaging (766) Radboud University Medical Center Nijmegen The NetherlandsDonders Institute for Brain, Cognition and Behavior; Department of Neurology Radboud University Medical Center Nijmegen The NetherlandsDonders Institute for Brain, Cognition and Behavior; Department of Neurology Radboud University Medical Center Nijmegen The NetherlandsAbstract Background It is unclear how changes in quantitative muscle magnetic resonance imaging (MRI) relate to changes in clinical outcome in facioscapulohumeral muscular dystrophy (FSHD), although this information is crucial for optimal use of MRI as imaging biomarker in trials. We therefore assessed muscle MRI and clinical outcome measures in a large longitudinal prospective cohort study. Methods All patients were assessed by MRI at baseline and at 5‐year follow‐up, employing 2pt‐Dixon and turbo inversion recovery magnitude (TIRM) sequences, after which fat fraction and TIRM positivity of 19 leg muscles were determined bilaterally. The MRI compound score (CoS) was defined as the mean fat fraction of all muscles weighted for cross‐sectional area. Clinical outcome measures included the Ricci‐score, FSHD clinical score (FSHD‐CS), MRC sumscore (MRC‐SS), and motor‐function‐measure (MFM). Results We included 105 FSHD patients [mean age 54 ± 14 years, median Ricci‐score 7 (range 0–10)]. The median change over 5 years' time in the MRI‐CoS was 2.0% (range −4.6 to +12.1; P < 0.001). The median change over 5 years' time in clinical outcome measures was small in all measures, with z‐scores ranging from 5.0 to 7.2 (P < 0.001). The change in MRI‐CoS correlated with change in FSHD‐CS and Ricci‐score (ρ = 0.25, respectively; ρ = 0.23, P < 0.05). The largest median increase in MRI‐CoS was seen in baseline subgroups with an MRI‐CoS 20–40% (6.1%), with ≥2 TIRM positive muscles (3.5%) or with an FSHD‐CS 5–10 (3.1%). Conclusions This 5‐year study showed significant changes in MRI and clinical outcome measures and a significant correlation between changes in MRI‐CoS and changes in clinical outcome measures. In addition, we identified subgroups of patients that are most prone to radiological disease progression. This knowledge further establishes quantitative MRI parameters as prognostic biomarkers in FSHD and as efficacy biomarkers in upcoming clinical trials.https://doi.org/10.1002/jcsm.13250FSHDMuscle imagingMRIBiomarkerClinical outcome |
| spellingShingle | Sanne C.C. Vincenten Karlien Mul Daniël vanAs Julia J. Jansen Linda Heskamp Arend Heerschap Baziel G.M. vanEngelen Nicol C. Voermans Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome Journal of Cachexia, Sarcopenia and Muscle FSHD Muscle imaging MRI Biomarker Clinical outcome |
| title | Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome |
| title_full | Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome |
| title_fullStr | Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome |
| title_full_unstemmed | Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome |
| title_short | Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome |
| title_sort | five year follow up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy the link to clinical outcome |
| topic | FSHD Muscle imaging MRI Biomarker Clinical outcome |
| url | https://doi.org/10.1002/jcsm.13250 |
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