A gene therapy to cure blindness is now a step closer to getting the U.S. FDA’s approval

Theodor Karl Gustav von Leber
Theodor Karl Gustav von Leber | LHON | ianlogan.co.uk

On Thursday, a review panel from the U.S. Food and Drug Administration (FDA) gave their stamp approval for an experimental gene therapy to cure blindness. The treatment is for a genetically inherited blindness known as Leber Congenital Aumaurosis.

Leber Congenital Aumaurosis (LCA) is a rare inherited eye disease that appears at childbirth or during the first few months of a person’s life. This eye disease was said to affect one in every 40 thousand newborns.

LCA was first described by Theodor Leber, a German ophthalmologist, in the 19th century. Aside from its general descriptions (congenital for childbirth condition and amaurosis for loss of vision not associated with lesions), LCA’s presentation varies because of its association with multiple genes.

Apparently, if the FDA heeds the advice of the 16 experts who voted unanimously that the said gene therapy is more beneficial than risky, it could be commercially available soon.

#Genetherapy to cure blindness gets approval of the FDA's panel of advisers!Click To Tweet

Luxturna: Gene Therapy to Cure Blindness

Luxturna, the drug developed by the Philadelphia-based biotech company Spark Therapeutics, hopes to treat the LCA condition triggered by mutations in the RPE65 gene.

Currently, the Online Mendelian Inheritance in Man (OMIM), an updated catalog of human genes, genetic disorders, and traits recognizes 18 types of LCA.

Gene therapy to cure blindness will target the LCA caused by the RPE65 mutation
OMIM’s list of LCA types | Wikipedia | en.wikipedia.org

In a study published in The Lancet, 11 of the 21 patients who went through the experimental treatment indeed experienced a significant vision improvement. 93 percent of the participants confirmed they experienced some improvement.

Various retinal phenotypes among LCA patients with one mutation to be cured by a recent gene therapy to cure blindness
Various retinal phenotypes among LCA patients with one mutation to be cured by a recent gene therapy to cure blindness | ResearchGate | researchgate.net

The improvement in each participant was measured by their ability to navigate obstacles under poor lighting conditions, Gizmodo reported.

The gene therapy Luxturna will use genetically engineered viruses to correct the defects caused by two faulty RPE65, which code for an enzyme that nourishes cells in the retina.

For years, gene therapy to cure blindness has been found by experts to be more complicated than what they initially thought. Corrected genes sometimes fail to stay where they are supposed to and getting them to their place is a difficult feat. In worst cases, patients could acquire cancer or even die.

In a statement to NBCNews, Dr. Albert Maguire of Children’s Hospital of Philadelphia said:

“Almost all will proceed to blindness. Other than voretigene, there are no avail treatments that can slow or stop the insidious loss of vision in these patients.”

However, Luxturna’s approach is straightforward. An eye surgeon just has to make a small incision in the eye for the treatment to be infused onto the retina. The therapy aims to stop degeneration, and the positive and quick improvements shown by the participants were believed by experts to be remarkable.

Luxturna to Face Cost Issues

The approval of Luxturna would mark a new milestone for the medical and scientific world who have been struggling for years to get FDA’s approval for gene therapies. Also, it would pave the way for people to have new drug payment models in the United States.

Most drugs on the market are usually given in several dosages with many to be taken for several years or even a lifetime. However, gene therapies are developed to be given only once to a patient.

In the case of Luxturna, the one-time payment for the drug could cost as much as $1 million USD for both eyes. Something that U.S. insurers, who normally pay for treatments in increments, might oppose.

David Rind, Chief Medical Officer for the non-profit Institute for Clinical and Economic Review who’s currently evaluating Spark’s treatment for what price would make it cost effective was quoted as saying:

“We’re likely to end up truly curing some horrific diseases and we’re going to have to figure this stuff out — how we pay for it, how we assess it, what fair pricing is.”

The FDA has until January to assess the recommendations of the panel and decide whether to approve the gene therapy or not.

Would the latest gene therapy to cure blindness, Luxturna, help save lives? Or, it would just be another cure exclusive to people with enough money to pay for the cost of the procedure? Let us know your thoughts in the comment section below!

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