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Gonzalez Castillo et al. J Transl Genet Genom. 2025;9:338-51 Journal of Translational
DOI: 10.20517/jtgg.2025.57
Genetics and Genomics

Review Open Access

An appraisal of emerging dystrophin restoration
therapies in Duchenne muscular dystrophy

1
1
2
Zurisadai Gonzalez Castillo , Kaitlin Batley , Leslie Nelson , Susan T. Iannaccone 1
1
Pediatric Neuromuscular Division, Department of Pediatrics and Neurology, The University of Texas Southwestern Medical
Center, Dallas, TX 75207, USA.
2
Department of Physical Therapy, The University of Texas Southwestern Medical Center, Dallas, TX 75207, USA.
Correspondence to: Prof. Zurisadai Gonzalez Castillo, Pediatric Neuromuscular Division, Department of Pediatrics and
Neurology, The University of Texas Southwestern Medical Center, Children’s Health, 2350 Stemmons Fwy, Suite 5400, Dallas,
TX 75207, USA. E-mail: zurisadai.gonzalezcastillo@utsouthwestern.edu
How to cite this article: Gonzalez Castillo Z, Batley K, Nelson L, Iannaccone ST. An appraisal of emerging dystrophin restoration
therapies in Duchenne muscular dystrophy. J Transl Genet Genom. 2025;9:338-51. https://dx.doi.org/10.20517/jtgg.2025.57

Received: 16 Jun 2025 First Decision: 10 Sep 2025 Revised: 28 Sep 2025 Accepted: 22 Oct 2025 Published: 19 Nov 2025

Academic Editor: Corrado Italo Angelini Copy Editor: Fangling Lan Production Editor: Fangling Lan

Abstract
Duchenne muscular dystrophy (DMD) is an X-linked, progressive muscle disorder caused by pathogenic variants
in the DMD gene and resulting in a complete loss of dystrophin protein expression. As of now, there is no cure for
DMD, and despite improvements in standard of care, there are significant unmet needs for disease modifying
treatments. This article provides an overview of emerging therapies aimed at dystrophin restoration, emphasizing
exon skipping and gene therapy, within the rapidly evolving landscape for Duchenne muscular dystrophy.

Keywords: Duchenne muscular dystrophy, dystrophin, gene therapy, exon skipping

INTRODUCTION
Duchenne muscular dystrophy (DMD) is a devastating degenerative muscle disease that affects
approximately 1:5,000~10,000 males. DMD prevalence reported in the literature is variable, ranging from
0.9 to 16.8 per 100,000 males. A recent meta-analysis showed a pooled global prevalence of 5.3 cases per
100,000 males . The disease is characterized by childhood-onset muscle weakness, which progresses to loss
[1,2]
of motor function and premature death due to respiratory and cardiac insufficiency . Data from the
[1]
Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) showed that over the

© The Author(s) 2025. Open Access This article is licensed under a Creative Commons Attribution 4.0
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