A review article recently published in Expert Review of Neurotherapeutics discusses the safety and efficacy of several existing and novel therapies for Duchenne muscular dystrophy (DMD).
“The lack of practical and established pharmacotherapy options leaves a large gap in the consensus of treatment of these patients and a large need for updated and refined therapies,” the authors emphasize.
Existing clinical guidelines recommend the use of corticosteroids as a first-line therapy for DMD. Prednisone and deflazacort are the most commonly prescribed corticosteroids in patients with DMD, providing many benefits such as reducing inflammation, improving lung function and prolonging ambulation.
However, corticosteroids can induce a range of side effects, namely weight gain, decreased bone density, growth and puberty suppression and changes in behavior. Vamorolone, which was approved in 2023 for individuals with DMD, is a corticosteroid that aims to induce the same responses as prednisone and deflazacort while minimizing side effects.
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Several forms of gene therapy have also emerged in recent years. These include exon skipping, which prevents the mutated portion of the DNA from being translated into the dystrophin protein, leading to production of a truncated but still functional version of the protein. There are currently four exon-therapies targeting different mutations on the market.
Delandistrogene moxeparvovec is another approved gene therapy that delivers a shortened version of the dystrophin gene, known as micro-dystrophin using the viral vector rAAVrh74. One of the biggest concerns surrounding AAV therapy is the potential for adverse events including immune reactions and cardiac complications.
Due to the risk of complications associated with AAV-based therapies, researchers have been exploring alternate avenues including histone deacetylase (HDAC) inhibitors. HDAC levels are often elevated in the skeletal muscle of patients with DMD. Givinostat is an HDAC inhibitor approved in March 2024 that has been shown to exhibit anti-inflammatory and regenerative properties.
A number of therapeutics are also in varying stages of development, including gene therapies with novel viral vectors, CRISPR gene editing, cell therapies and drugs that limit fibrosis.
“The ongoing research and clinical focus on both genetic and symptomatic interventions represent a crucial and evolving strategy, ultimately striving to transform DMD from a terminal genetic disorder to a manageable condition with improved quality of life,” the study concluded.
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