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Notícias Nacionais / 15/04/2021

WORLD NEWS

Blind patient birth sees for the first time with intraocular injection

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Blind patient birth sees for the first time with intraocular injection


A patient with a genetic form of childhood blindness, that is, blind birth, saw for the first time after receiving an intraocular injection of an experimental RNA therapy.

The gene editing research was conducted at the Perelman School of Medicine at the University of Pennsylvania, USA. The vision remained for the 15 months following the application and he remains under observation.

The results of the case, detailed in an article published in Nature Medicine, show that the treatment led to marked changes in the fovea, the most important point of human central vision.

In the international clinical trial, participants received an intraocular injection of an antisense oligonucleotide called sepofarsen.

This short RNA molecule works by increasing normal levels of the CEP290 protein in the photoreceptors of the eye and improving retinal function in daytime vision conditions.

The treatment was designed for patients diagnosed with Leber's congenital amaurosis (ACL) - an eye disease that mainly affects the retina - who have a CEP290 mutation, which is one of the most implicated genes in patients with the disease.

Patients with this form of ACL suffer severe visual impairment as early as childhood.

"Our results set a new standard for which biological improvements are possible," said co-author Artur Cideciyan, PhD, a research professor of ophthalmology at the Scheie Eye Institute at Penn Medicine.

Patients

In the first 2019 study published in Nature Medicine, Cideciyan and colleagues, including Dr. Samuel G. Jacobson, found that repeated sepofarsen injections every three months resulted in continuous vision gains in 10 patients.

The eleventh patient, whose treatment was detailed in this month's article, received only one injection and was examined over a period of 15 months.

Before treatment, the patient had reduced visual acuity, small visual fields and absence of night vision.

Improvements

After a single injection of sepofarsen, more than a dozen measurements of visual function and structure of the retina showed major improvements, pointing to a biological effect of the treatment.

The researchers observed an improvement in vision after one month and a maximum effect after the second month. Most impressive: the improvements remained when tested for more than 15 months after the first and only injection.


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