Why the study?
The exact pathogenic mechanisms involved in muscle wasting in facioscapulohumeral muscular dystrophy have yet to be elucidated, prompting a meeting to share recent advances, interventional strategies, and clinical outcome measures.
The 2021 FSHD International Research Congress highlighted advances in understanding DUX4-mediated pathology, biomarker discovery, and novel therapeutic strategies including p38 inhibitors and antisense oligonucleotides.
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common genetic myopathy, characterized by slowly progressing and highly heterogeneous muscle wasting with a typical onset in the late teens/early adulthood [1]. Although the etiology of the disease for both FSHD type 1 and type 2 has been attributed to gain-of-toxic function stemming from aberrant DUX4 expression, the exact pathogenic mechanisms involved in muscle wasting have yet to be elucidated [2-4]. The 2021 FSHD International Research Congress, held virtually on June 24-25, convened over 350 researchers and clinicians to share the most recent advances in the understanding of the disease mechanism, discuss the proliferation of interventional strategies and refinement of clinical outcome measures, including results from the ReDUX4 trial, a phase 2b clinical trial of losmapimod in FSHD [NCT04003974].
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Jagannathan et al. (2022) studied this question.
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