Novel Gene Therapy Shows Promise in Treating Hereditary Deafness

The Genetic Basis of Hearing Loss

Hereditary deafness, a common sensory disorder caused by genetic factors, affects an estimated 26 million people worldwide. The OTOF gene mutation (c.2485C>T, p.Q829X) is one of the most prevalent causes of auditory neuropathy spectrum disorder (ANSD), a type of non-syndromic hearing loss. This mutation leads to defects in otoferlin, a key protein involved in auditory signal transmission in the inner ear.

Despite ongoing research and early clinical trials, no long-term treatments have been available to address OTOF mutation-induced deafness—until now.

A New Hope: Base Editing and AAV Gene Therapy

In a study led by researchers working on gene editing technology, a mouse model of OTOF-induced deafness was developed to mimic the human condition. Using a base editor composed of ABE7.10max fused with the Cas9 variant SpCas9-NG, the researchers targeted the Otof gene mutation (c.2482C>T, p.Q828X) in the mice. The editing machinery was delivered into the inner ear via PackGene’s adeno-associated viruses (AAV-PHP.eB), which efficiently transduced inner hair cells (IHCs).

Remarkably, this approach restored the levels of otoferlin in 88% of the treated inner hair cells. Auditory function was also rescued, bringing the hearing ability of the treated mice to near-wild-type levels, with the effect lasting over 1.5 years. Furthermore, synaptic exocytosis in the IHCs showed significant improvement, underscoring the treatment’s potential.

PackGene’s Role in the Breakthrough

PackGene provided the AAV vectors used in this study, contributing to the successful delivery of the base editors to the targeted cells. The company’s expertise in developing high-quality AAV systems has been instrumental in advancing gene therapies for various genetic disorders, including hereditary deafness.

This novel AAV-based gene therapy marks a significant step forward in addressing OTOF mutation-induced deafness. The study’s findings suggest that base editors, when packaged in AAV vectors, could offer a long-lasting and precise therapeutic option for hereditary hearing loss.

Looking Ahead

The study’s success offers hope for future clinical applications of base editing in treating genetic deafness. While challenges such as off-target effects and the need for further optimization remain, the research demonstrates that gene editing, combined with advanced delivery methods like PackGene’s AAV vectors, holds great promise in revolutionizing treatments for hereditary diseases.

As the field of gene therapy continues to evolve, collaborations between research institutions and biotechnology companies like PackGene will play a crucial role in bringing these groundbreaking treatments to patients worldwide.

PackGene Biotech is a world-leading CRO and CDMO, excelling in AAV vectors, mRNA, plasmid DNA, and lentiviral vector solutions. Our comprehensive offerings span from vector design and construction to AAV, lentivirus, and mRNA services. With a sharp focus on early-stage drug discovery, preclinical development, and cell and gene therapy trials, we deliver cost-effective, dependable, and scalable production solutions. Leveraging our groundbreaking π-alpha 293 AAV high-yield platform, we amplify AAV production by up to 10-fold, yielding up to 1e+17vg per batch to meet diverse commercial and clinical project needs. Moreover, our tailored mRNA and LNP products and services cater to every stage of drug and vaccine development, from research to GMP production, providing a seamless, end-to-end solution.

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