BMJ open · 2026
Image-based assessment of muscle contractile performance in facioscapulohumeral muscular dystrophy: protocol of the MUSCLE+ observational study in the Netherlands.
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van Iersel Odette, Weekenstroo Harm, Cameron Donnie, Doorduin Jonne, van Alfen Nens
Аннотация
INTRODUCTION: Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary muscular dystrophy with a highly variable and slowly progressing disease course. This variable natural history complicates the identification of biomarkers of disease progression and treatment effects, while there is a growing need for measures which can capture changes within a trial timeframe.
METHODS AND ANALYSIS: This study presents the protocol of the MRI UltraSound Comparison Load Evaluation study, a prospective observational muscle imaging biomarker study where Dutch adult patients with FSHD type 1 or type 2 (n=50) are compared with healthy controls (n=25), with recruitment until May 2026 and a 1 year follow-up for the FSHD patients. This study evaluates how ultrasound-defined contractile performance can be used to monitor disease progression in FSHD compared with current clinical and advanced imaging measures, including MRI. Patients will undergo a clinical examination (including strength and disease severity measures), multiparametric MRI, quantitative ultrasound (B-mode and elastography), muscle contractile performance (including dynamometry, surface electromyography and speckle-tracking ultrasound) in four lower extremity and two upper extremity muscles. Healthy controls will undergo quantitative ultrasound and muscle contractile performance assessment; a subset (n=10) will also have an MRI scan. This study is designed to extend prior FSHD cohorts by exploring if, and how, ultrasound-defined contractile performance can be used to monitor disease progression in FSHD, and how it compares to clinical measures, including multiparametric MRI.
ETHICS AND DISSEMINATION: The protocol of this study was approved by the regional medical ethics committee (METC Oost-Nederland, NL84168.091.23; 2023-16635). Results will be disseminated through peer-reviewed publications and through national or international presentations at symposia and conferences.
TRIAL REGISTRATION NUMBER: NCT06227182
METHODS AND ANALYSIS: This study presents the protocol of the MRI UltraSound Comparison Load Evaluation study, a prospective observational muscle imaging biomarker study where Dutch adult patients with FSHD type 1 or type 2 (n=50) are compared with healthy controls (n=25), with recruitment until May 2026 and a 1 year follow-up for the FSHD patients. This study evaluates how ultrasound-defined contractile performance can be used to monitor disease progression in FSHD compared with current clinical and advanced imaging measures, including MRI. Patients will undergo a clinical examination (including strength and disease severity measures), multiparametric MRI, quantitative ultrasound (B-mode and elastography), muscle contractile performance (including dynamometry, surface electromyography and speckle-tracking ultrasound) in four lower extremity and two upper extremity muscles. Healthy controls will undergo quantitative ultrasound and muscle contractile performance assessment; a subset (n=10) will also have an MRI scan. This study is designed to extend prior FSHD cohorts by exploring if, and how, ultrasound-defined contractile performance can be used to monitor disease progression in FSHD, and how it compares to clinical measures, including multiparametric MRI.
ETHICS AND DISSEMINATION: The protocol of this study was approved by the regional medical ethics committee (METC Oost-Nederland, NL84168.091.23; 2023-16635). Results will be disseminated through peer-reviewed publications and through national or international presentations at symposia and conferences.
TRIAL REGISTRATION NUMBER: NCT06227182