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Limbal Approach-Subretinal Injection of Viral Vectors for Gene Therapy in Mice Retinal Pigment Epithelium
Published on: August 7, 2015
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Gene therapy for Leber hereditary optic neuropathy
Marco Battista1, Valerio Carelli2,3, Leonardo Bottazzi1
1Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele, Milan, Italy.
Expert Opinion on Biological Therapy
|June 28, 2024
Summary
Gene therapy shows promise for Leber hereditary optic neuropathy (LHON), a mitochondrial disease causing vision loss. Clinical trials are exploring adeno-associated viral vectors (AAV-based) to deliver wild-type genes, aiming to restore vision.
Area of Science:
- Mitochondrial genetics and ophthalmology.
- Neurodegenerative diseases and gene therapy.
Background:
- Leber hereditary optic neuropathy (LHON) is a common inherited mitochondrial disease causing severe vision loss, primarily in young men.
- Causative mtDNA variants affect Complex I, impairing oxidative phosphorylation in retinal ganglion cells and leading to cell death.
- Adeno-associated viral vector (AAV-based) gene therapy is a promising approach for LHON and other mitochondrial diseases.
Purpose of the Study:
- To review and critically compare reports from completed Leber hereditary optic neuropathy (LHON) gene therapy trials.
- To identify new challenges and potential improvements in gene therapy for LHON.
Main Methods:
- Review of basic concepts in mitochondrial diseases, LHON, and gene therapy procedures.
- Critical comparison of reports from completed LHON clinical trials, such as RESCUE.
Main Results:
- Latest gene therapy trials highlight challenges, including improving vision in the untreated eye and better outcomes in later-stage treatment (6-12 months).
Conclusions:
- Further understanding of LHON pathogenesis is needed.
- Combined medical and gene therapy approaches, along with optimized genetic correction, could enhance visual outcomes.
- Addressing challenges in contralateral eye treatment and optimal treatment timing is crucial for improving patient vision.
