Developing a gene therapy for Charcot-Marie-Tooth disease: progress and challenges

开发治疗夏科-马里-图斯病的基因疗法:进展与挑战

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Abstract

Charcot-Marie-Tooth (CMT) disease refers to a diverse group of inherited and progressive neuropathies for which no approved treatments currently exist and management strategies remain limited to symptomatic interventions. Recent advances in gene therapy offer promising strategies to address CMT neuropathies. This review highlights key progress in developing gene silencing, replacement, or editing therapies for representative CMT types, and summarizes preclinical successes and translational challenges. Delivery technologies such as AAV vectors and nanoparticle systems have shown promise, but delivery limitations across the blood-nerve and -brain barriers, immune reactions and other potential toxicities, and scalability remain challenging. Advancing into the era of CMT treatments requires clinical readiness, which depends on optimizing therapeutic delivery, enhancing safety, and developing biomarkers for treatment monitoring.

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