Department of Neurology; Wellstone Muscular Dystrophy Program; Emerson Lab
Cellular and Molecular Physiology | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Musculoskeletal Diseases | Musculoskeletal, Neural, and Ocular Physiology | Nervous System Diseases
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscular dystrophy with a variable age of onset, severity, and progression. While there is still no cure for this disease, progress towards FSHD therapies has accelerated since the underlying mechanism of epigenetic derepression of the double homeobox 4 (DUX4) gene leading to skeletal muscle toxicity was identified. This has facilitated the rapid development of novel therapies to target DUX4 expression and downstream dysregulation that cause muscle degeneration. These discoveries and pre-clinical translational studies have opened new avenues for therapies that await evaluation in clinical trials. As the field anticipates more FSHD trials, the need has grown for more reliable and quantifiable outcome measures of muscle function, both for early phase and phase II and III trials. Advanced tools that facilitate longitudinal clinical assessment will greatly improve the potential of trials to identify therapeutics that successfully ameliorate disease progression or permit muscle functional recovery. Here, we discuss current and emerging FSHD outcome measures and the challenges that investigators may experience in applying such measures to FSHD clinical trial design and implementation.
clinical trial, double homeobox 4 (DUX4), facioscapulohumeral muscular dystrophy (FSHD), magnetic resonance imaging (MRI), outcome measures
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Copyright © 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
DOI of Published Version
Ghasemi M, Emerson CP Jr, Hayward LJ. Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials. Cells. 2022 Feb 16;11(4):687. doi: 10.3390/cells11040687. PMID: 35203336; PMCID: PMC8870318. Link to article on publisher's site
Ghasemi M, Emerson CP, Hayward LJ. (2022). Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials. UMass Chan Medical School Faculty Publications. https://doi.org/10.3390/cells11040687. Retrieved from https://escholarship.umassmed.edu/faculty_pubs/2192
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