UMass Chan Medical School Faculty Publications

UMMS Affiliation

Department of Neurology; Wellstone Muscular Dystrophy Program; Emerson Lab

Publication Date

2022-02-16

Document Type

Article

Disciplines

Cellular and Molecular Physiology | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Musculoskeletal Diseases | Musculoskeletal, Neural, and Ocular Physiology | Nervous System Diseases

Abstract

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.

Keywords

clinical trial, double homeobox 4 (DUX4), facioscapulohumeral muscular dystrophy (FSHD), magnetic resonance imaging (MRI), outcome measures

Rights and Permissions

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

10.3390/cells11040687

Source

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

Related Resources

Link to Article in PubMed

Journal/Book/Conference Title

Cells

PubMed ID

35203336

Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.

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