Patient With Rare Genetic Disorder Regains Vision

A Patient with rare genetic disorder has regained his vision with the help of a single injection. The…
Single injection

A Patient with rare genetic disorder has regained his vision with the help of a single injection. The patient received a single injection into the eye. Scientists at the University of Pennsylvania carried out this gene-editing study.

According to the results, the treatment resulted in marked changes at the fovea. Participants were given sepofarsen, intraocular injection of an antisense oligonucleotide. This RNA molecule increases the level of CEP290 protein in the photoreceptors of the eye and also improves the function of the retinal under day vision.

This treatment is meant for patients suffering from Leber congenital amaurosis (LCA). This condition affects the retina. Patients diagnosed with this type of LCA battle with severe visual impairment. A single injection of sepofarsen has helped a patient with rare genetic disorder.

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Our results set a new standard of what biological improvements are possible. Importantly, we established a comparator for currently-ongoing gene-editing therapies for the same disease, which will allow comparison of the relative merits of two different interventions.

Artur Cideciyan, PhD

A study carried in 2019 revealed that injecting patients with sepofarsen every three months helped 10 patients experience continued vision gains. The eleventh patient has only received one injection. Before the treatment, the patient suffered from small visual fields and reduced visual acuity.

The patient stopped taking the quarterly maintenance dose after the first dose since the frequent dosing could result in cataracts. After injecting patients with a single dose of sepofarsen, researchers discovered that over a dozen measurements of visual function had great improvements.

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