Current Therapeutic Approaches in FSHD

Overview

Journal J Neuromuscul Dis

Publisher Sage Publications

Specialty Neurology

Date 2021 Feb 13

PMID 33579868

Citations 16

Authors

Leo H Wang

Rabi Tawil

Affiliations

Soon will be listed here.

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies. Over the last decade, a consensus was reached regarding the underlying cause of FSHD allowing-for the first time-a targeted approach to treatment. FSHD is the result of a toxic gain-of-function from de-repression of the DUX4 gene, a gene not normally expressed in skeletal muscle. With a clear therapeutic target, there is increasing interest in drug development for FSHD, an interest buoyed by the recent therapeutic successes in other neuromuscular diseases. Herein, we review the underlying disease mechanism, potential therapeutic approaches as well as the state of trial readiness in the planning and execution of future clinical trials in FSHD.

Citing Articles

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