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Botaretigene sparoparvovec (AAV5-RPGR) is an experimental gene therapy for X-linked retinitis pigmentosa developed by Janssen Pharmaceuticals. [1] [2] References
Retinal gene therapy holds a promise in treating different forms of non-inherited and inherited blindness.. In 2008, three independent research groups reported that patients with the rare genetic retinal disease Leber's congenital amaurosis had been successfully treated using gene therapy with adeno-associated virus (AAV).
The goal of gene therapy studies is to virally supplement retinal cells expressing mutant genes associated with the retinitis pigmentosa phenotype with healthy forms of the gene; thus, allowing the repair and proper functioning of retinal photoreceptor cells in response to the instructions associated with the inserted healthy gene.
MeiraGTx's botaretigene sparoparvovec targets X-linked retinitis pigmentosa through RPGR gene restoration and Beacon Therapeutics’ laruparetigene zosaparvovec aims at similar conditions, showing retinal sensitivity improvements in trials. [8] Another notable effort is Atsena Therapeutics’ ATSN-201 for X-linked retinoschisis. [9]
2017 X-linked Retinitis Pigmentosa Gene Therapy Trial Mutations in the X-linked RPGR gene are the most common cause of severe sight loss in retinitis pigmentosa . The RPGR gene contains a highly repetitive sequence of purine bases in the DNA with a large section comprising almost exclusively Guanine or Adenine nucleotides , which made it very ...
Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [8]
The first retinal gene therapy to be approved by the FDA was Voretigene neparvovec in 2017, which treats Leber's congenital amaurosis, a genetic disorder that can lead to blindness. These treatments also use subretinal injections of AAV vector and are therefore foundational to research in gene therapy for color blindness. [2] [3]
In 2012, Tsang produced long term visual improvement in retinitis pigmentosa mouse models in two experiments, one using induced pluripotent stem cells and the other gene therapy. [7] In 2015, Tsang was among the leaders of a team which discovered a gene mutation that can cause achromatopsia. [1]