ArticleMuscle & nerve2025
A 5-year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials.
Article in Muscle & nerve, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
4 citing papers in PubMed.
- Clinical and functional outcome measures in LAMA2-related muscular dystrophy and SELENON-related myopathy; a 1.5-year natural history study.Journal of neuromuscular diseases · 2026Article
- A toolkit for new facioscapulohumeral muscular dystrophy trial sites.Journal of neuromuscular diseases · 2026Review
- The Facioscapulohumeral Muscular Dystrophy Rasch-Built Overall Disability Scale (FSHD-RODS): Longitudinal Assessment of a Disease-Specific Patient Reported Outcome.European journal of neurology · 2025Article
- A 5-year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials.Muscle & nerve · 2025Article
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Authors and funding
8 authors.
Funding
Abstract
INTRODUCTION/
aimsThe number of clinical trials in facioscapulohumeral muscular dystrophy (FSHD) is expected to increase in the near future. There is a need for clinical outcome assessments (COAs) that can capture disease progression over the relatively short time span of a clinical trial. In this study, we report the natural progression of FSHD and determine the feasibility of COAs for clinical trials.
methodsGenetically confirmed FSHD patients underwent various COAs at baseline and after 5 years. COAs consisted of the Motor Function Measure (MFM), manual muscle testing using the Medical Research Council score, six-minute walk test, quantitative muscle strength assessment of the quadriceps muscle, clinical severity score, and FSHD evaluation score (FES). Statistical significance and the minimal clinically important difference (MCID) were calculated and power calculations were performed.
resultsOne hundred fifty-four symptomatic FSHD patients were included, with a mean (SD) age of 51.4 (14.6) years old. All COAs showed a minimal, yet statistically significant progression after 5 years. MCID was reached for the MFM Domain 1, MFM total score, and FES. These three COAs showed the lowest sample size requirements for clinical trials (185, 156, and 201 participants per group, respectively, for a trial duration of 2 years). DISCUSSION: The captured FSHD disease progression rate in 5 years was generally minimal. The COAs in this study are not feasible for clinical trials with a duration of 2 years. Extended trial durations or novel outcome assessments might be necessary to improve trial feasibility in FSHD.
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