AAV2-Mediated Gene Therapy for Choroideremia: 5-Year Results and Alternate Anti-sense Oligonucleotide Therapy

Zhai, Yi; Xu, Mengyue; Radziwon, Alina; Dimopoulos, Ioannis; Crichton, Paul; Mah, Rachel; MacLaren, Robert E.; Somani, Rizwan; Tennant, Matthew; MacDonald, Ian M.

doi:10.1016/j.ajo.2022.12.022

Cited by 2 publications

(1 citation statement)

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“…In two patients, antisense oligonucleotide treatment did not restore REP1 expression in lymphoblast cells [ 16 ]. More recently, Zhai et al showed the recovery of 83.2–95.0% of the normal RNA and 57.5% of the normal protein in fibroblasts from two trial patients with the c.1245-521A>G mutation using a customized 25-mer antisense oligonucleotide [ 17 ]. Since antisense oligonucleotide therapy is mutation-dependent, and a common splice variant has not been reported for CHM , this may not be as widely applicable as other therapies described.…”

Section: Introductionmentioning

confidence: 99%

Choroideremia: The Endpoint Endgame

Abdalla Elsayed,

Taylor,

Josan

et al. 2023

IJMS

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Choroideremia is an X-linked retinal degeneration resulting from the progressive, centripetal loss of photoreceptors and choriocapillaris, secondary to the degeneration of the retinal pigment epithelium. Affected individuals present in late childhood or early teenage years with nyctalopia and progressive peripheral visual loss. Typically, by the fourth decade, the macula and fovea also degenerate, resulting in advanced sight loss. Currently, there are no approved treatments for this condition. Gene therapy offers the most promising therapeutic modality for halting or regressing functional loss. The aims of the current review are to highlight the lessons learnt from clinical trials in choroideremia, review endpoints, and propose a future strategy for clinical trials.

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Section: Introductionmentioning

confidence: 99%

Choroideremia: The Endpoint Endgame

Abdalla Elsayed,

Taylor,

Josan

et al. 2023

IJMS

Self Cite

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Gene Therapies in Clinical Development to Treat Retinal Disorders

McClements,

Elsayed,

Major

et al. 2024

Mol Diagn Ther

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Gene therapies have emerged as promising treatments in clinical development for various retinal disorders, offering hope to patients with inherited degenerative eye conditions. Several gene therapies have already shown remarkable success in clinical trials, with significant improvements observed in visual acuity and the preservation of retinal function. A multitude of gene therapies have now been delivered safely in human clinical trials for a wide range of inherited retinal disorders but there are some gaps in the reported trial data. Some of the most exciting treatment options are not under peer review and information is only available in press release form. Whilst many trials appear to have delivered good outcomes of safety, others have failed to meet primary endpoints and therefore not proceeded to phase III. Despite this, such trials have enabled researchers to learn how best to assess and monitor patient outcomes, which will guide future trials to greater success. In this review, we consider recent and ongoing clinical trials for a variety of potential retinal gene therapy treatments and discuss the positive and negative issues related to these trials. We discuss the treatment potential following clinical trials as well as the potential risks of some treatments under investigation. As these therapies continue to advance through rigorous testing and regulatory approval processes, they hold the potential to revolutionise the landscape of retinal disorder treatments, providing renewed vision and enhancing the quality of life for countless individuals worldwide.

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AAV2-Mediated Gene Therapy for Choroideremia: 5-Year Results and Alternate Anti-sense Oligonucleotide Therapy

Cited by 2 publications

References 25 publications

Choroideremia: The Endpoint Endgame

Choroideremia: The Endpoint Endgame

Gene Therapies in Clinical Development to Treat Retinal Disorders

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