Work

Image-based assessment of muscle contractile performance in facioscapulohumeral muscular dystrophy: protocol of the MUSCLE+ observational study in the Netherlands

Year: 2026

Type: article

Abstract: 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

Source: BMJ Open

DOI: 10.1136/bmjopen-2026-122193

Authors: Odette van Iersel, Harm Weekenstroo, Donnie Cameron, Jonne Doorduin, Nens van Alfen

Institutions: Radboud University Nijmegen, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,839