Skeletal Muscle (Jan 2022)

Meeting report: the 2021 FSHD International Research Congress

  • Sujatha Jagannathan,
  • Jessica C. de Greef,
  • Lawrence J. Hayward,
  • Kyoko Yokomori,
  • Davide Gabellini,
  • Karlien Mul,
  • Sabrina Sacconi,
  • Jamshid Arjomand,
  • June Kinoshita,
  • Scott Q. Harper

DOI
https://doi.org/10.1186/s13395-022-00287-8
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 10

Abstract

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Abstract 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].