Penn scientists cure genetic blindness with a single injection into the eye

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Penn scientists cure genetic blindness with a single injection into the eye. Antisense oligonucleotide therapy uses small molecules to replace RNA. Researchers have now used those molecules to reduce a genetic form of blindness. This article was originally published on ScienceMag.

Penn scientists cure genetic blindness

Researchers at the University of Pennsylvania have reversed a genetic form of blindness in a patient using just one course of antisense oligonucleotide therapy, reports Clinical OMICS. The therapy, which targets mutant RNA, was injected into a patient’s eyes a year ago in a trial to treat Leber’s congenital amaurosis (LCA).

According to the NIH, ACL primarily affects the retina, leaving people with severe vision problems from birth. The trial, conducted at the Ski Eye Institute at Penn’s Perelman School of Medicine, focused on the use of antisense oligonucleotide therapy to treat ACL patients with one of the most common mutations in the disease.

RNA amplification

Antisense oligonucleotide therapy works by altering RNA, the messenger that instructs you to cleave proteins from your DNA. An article in Nature Reviews Neurology describes antisense oligonucleotides as “short, synthetic, single-stranded” molecules that can alter RNA to reduce, enhance, or modify protein construction.

In Penn’s study, the target protein was created by the mutated LCA gene. Professors Artur V. Sidesian and Samuel G. The team, led by Jacobson, injected an antisense oligonucleotide (called sepoferson) into the eyes of 11 patients.

In a previous study, according to Clinical OMICS, the team showed that administering the therapy every three months increased adequate protein levels in the eyes of 10 patients, improving their daytime vision.

But it is the experience of the eleventh patient that is the subject of his new Nature Medicine paper. That eleventh patient chose to receive only one Sepoferson course and declined the additional dose. The patient suffered from poor visual acuity, reduced field of vision, and zero night vision, Clinical OMICS reports.

Clinical OMICS

But after one injection, the patient showed marked improvement over the course of the next 15 months, similar to those who received multiple regular injections. Our results set a new standard for what biological improvements are possible with antisense oligonucleotide therapy in LCA caused by the CEP290 mutation, Cideciyan told Clinical OMICS.

Interestingly, the onset of the shooting effect was delayed; While improvement was shown after one month, benefits peaked after about three months, the authors write. That slow assimilation was unexpected and could provide insight into the treatment of other diseases that affect the cilia of the retinal cells (also known as those little vibrating hairs), the physical cause of ACL.

Antisense oligonucleotide therapy can be effective because small molecules can move within the nucleus of the cell, but they don’t move very quickly, so they can stay around until the job is done. The success of therapy and the unexpected success of an injection are prompting other clinical trials.

“There are currently a number of clinical trials using antisense oligonucleotides for various genetic defects, at least in the eye area, which arose from the success of Dr. Sidesian and Jacobson’s work on LCA involving CEP 290, Joan O ‘Brien, president of ophthalmology and director of the Ski Eye Institute, told Clinical OMICS.

The FDA has already approved several antisense therapies, specifically for neurological conditions, and they have been shown to be successful in treating spinal muscular atrophy and Duchenne muscular dystrophy. According to Neurology Genetics, antisense oligonucleotide therapy trials are currently being developed for Huntington, Parkinson’s and Alzheimer’s disease and now add genetic blindness to that list.

Jacobson told Clinical OMICS: “This work represents a really exciting direction for antisense RNA therapy. New drugs that use antisense RNA oligonucleotides have been around for 30 years, although everyone realized there was no need for these treatments.” . It was a good promise.

Pain scientists correct genetic blindness by injecting an injection into the eye. Antisense oligonucleotide therapy uses small molecules to replace RNA. Researchers have now used those molecules to reduce a genetic form of blindness.

Pain scientists correct genetic blindness

Researchers at the University of Pennsylvania have reversed a genetic form of blindness in a patient using just one course of antisense oligonucleotide therapy, reports Clinical OMICS. The therapy, which targets mutant RNA, was injected into a patient’s eyes a year ago in a trial to treat Leber’s congenital amaurosis (LCA).

According to the NIH, ACL primarily affects the retina, leaving people with severe vision problems from birth. The trial, conducted at the Ski Eye Institute at Penn’s Perelman School of Medicine, focused on the use of antisense oligonucleotide therapy to treat ACL patients with one of the most common mutations in the disease.

RNA amplification

Antisense oligonucleotide therapy works by altering RNA, the messenger that instructs you to cleave proteins from your DNA. An article in Nature Reviews Neurology describes antisense oligonucleotides as “short, synthetic, single-stranded” molecules that can alter RNA to reduce, enhance, or modify protein construction.

In Penn’s study, the target protein was created by the mutated LCA gene. Professors Artur V. Sidesian and Samuel G. The team, led by Jacobson, injected an antisense oligonucleotide (called sepoferson) into the eyes of 11 patients.

In a previous study, according to Clinical OMICS, the team showed that administering the therapy every three months increased adequate protein levels in the eyes of 10 patients, improving their daytime vision. But it is the experience of the eleventh patient that is the subject of his new Nature Medicine paper.

At once

That eleventh patient chose to receive only one Sepoferson course and declined the additional dose. The patient suffered from poor visual acuity, reduced field of vision, and zero night vision, Clinical OMICS reports, but after one injection, the patient showed marked improvement over the course of the next 15 months, similar to those who received multiple regular injections.

Clinical OMICS

“Our results set a new standard for what biological improvements are possible with antisense oligonucleotide therapy in LCA caused by the CEP290 mutation,” Cideciyan told Clinical OMICS. Interestingly, the onset of the shooting effect was delayed; While improvement was shown after one month, benefits peaked after about three months, the authors write.

That slow assimilation was unexpected and could provide insight into the treatment of other diseases that affect the cilia of the retinal cells (also known as those little vibrating hairs), the physical cause of ACL.

Antisense oligonucleotide therapy can be effective because small molecules can move within the nucleus of the cell, but they don’t move very quickly, so they can stay around until the job is done. The success of therapy and the unexpected success of an injection are prompting other clinical trials.

This work represents a truly exciting direction for RNA antisense therapy. Now, in the eye area at least, there are a number of clinical trials using antisense oligonucleotides for various genetic defects resulting from the breakthrough work in LCA involving DRS to CEP290. Sidassian and Jacobson, Joan O’Brien, president of ophthalmology and director of the Ski Eye Institute, told Clinical OMICS.

The FDA has already approved several antisense therapies, specifically for neurological conditions, and they have been shown to be successful in treating spinal muscular atrophy and Duchenne muscular dystrophy. According to Neurology Genetics, antisense oligonucleotide therapy trials are currently being developed for Huntington, Parkinson’s and Alzheimer’s disease.

And now add genetic blindness to that list

“This work represents a really exciting direction for RNA antisense therapy. New drugs that use RNA antisense oligonucleotides have been around for 30 years,” Jacobson told Clinical OMICS, “although everyone realized that these treatments weren’t available. absolutely”. a great promise.

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