Genetic treatment for blindness may soon be reality

November 11, 2017
Credit: CC0 Public Domain

Patients who had lost their sight to an inherited retinal disease could see well enough to navigate a maze after being treated with a new gene therapy, according to research presented today at AAO 2017, the 121st Annual Meeting of the American Academy of Ophthalmology.

Patients in the study had a condition called Leber congenital amaurosis (LCA), which begins in infancy and progresses slowly, eventually causing complete blindness. This new, first-of-its-kind gene therapy is currently under review by the U.S. Food and Drug Administration for potential approval this year. There are currently no treatments available for inherited .

Ophthalmologist Stephen R. Russell, M.D., of the University of Iowa, is one of the lead researchers for this pioneering treatment. Data from the first randomized, controlled, phase 3 study showed that 27 of 29 treated patients (93 percent) experienced meaningful improvements in their vision, enough that they could navigate a maze in low to moderate light. They also showed improvement in light sensitivity and peripheral vision, which are two visual deficits these patients experience.

Approval could open the door for other that could eventually treat the more than 225 genetic mutations known to cause blindness. It could be applied to retinitis pigmentosa, another inherited retinal disease caused by a . Or in the future, gene therapy could possibly provide key proteins needed to restore vision in more common diseases such as .

LCA is rare, affecting about 1 in 80,000 individuals. It can be caused by one or more of 19 different . The treatment, called voretigene neparvovec (Luxturna, Spark Therapeutics), involves a genetically modified version of a harmless virus. The virus is modified to carry a healthy version of the gene into the retina. Doctors inject billions of modified viruses into both of a patient's eyes.

Treatment doesn't restore normal vision. It does, however, allow patients to see shapes and light, allowing them to get around without a cane or a guide dog. It is unclear how long the treatment will last, but so far, most patients have maintained their vision for two years.

More than 200 with LCA have participated in gene therapy trials since 2007. However, no gene therapy has gotten this close to FDA approval for retinal disease or any other eye disease. In October, an advisory committee to the FDA unanimously endorsed the treatment. The FDA isn't obligated to follow the recommendations of its advisory committees, but it usually does. The agency is expected to make its decision no later than January 2018.

Explore further: FDA panel mulls gene therapy for kids with rare eye disease (Update)

Related Stories

FDA panel mulls gene therapy for kids with rare eye disease (Update)

October 12, 2017
(HealthDay)—A U.S. Food and Drug Administration advisory panel was poised on Thursday to recommend approval for a gene therapy that could grant the gift of sight to young people with a rare type of inherited vision loss.

Gene therapy shows promise for reversing blindness

October 2, 2017
Most causes of untreatable blindness occur due to loss of the millions of light sensitive photoreceptor cells that line the retina, similar to the pixels in a digital camera.

Gene therapy improves eyesight in people born with an incurable form of blindness

January 15, 2014
A new gene therapy has restored some sight in people born with an inherited, progressive form of blindness. The technique replaces a defective gene in the eye with a normal working copy of the gene using a single injection.

Mini form of replacement gene can delay degeneration in leber congenital amaurosis

October 5, 2017
A new study demonstrates success in using a shortened form of the CEP290 gene for gene therapy in a mouse model of Leber congenital amaurosis type 10 (LCA10), a retinal degenerative disorder that causes childhood blindness. ...

New trial for blindness rewrites the genetic code

March 20, 2017
Researchers have started a new gene therapy clinical trial to treat X-linked retinitis pigmentosa (XLRP), the most common cause of blindness in young people.

Gene-delivery system prevents vision loss from inherited eye disease

May 10, 2017
Researchers at Case Western Reserve University have developed gene-carrying nanoparticles that home in on target cells and prevent vision loss in mice with a human form of Leber congenital amaurosis.

Recommended for you

Scientists engineer drug delivery device that treats glaucoma directly inside the eye

November 23, 2017
Glaucoma, which affects over 60 million people worldwide, can seem easy to treat: medicated eye drops can be used to ease the buildup of fluid in the eye that underlies the condition. If glaucoma is caught early, eye drops ...

Research reveals biological mechanism of a leading cause of childhood blindness

November 16, 2017
Scientists at the Virginia Tech Carilion Research Institute (VTCRI) have revealed the pathology of cells and structures stricken by optic nerve hypoplasia, a leading cause of childhood blindness in developed nations.

Genetic treatment for blindness may soon be reality

November 11, 2017
Patients who had lost their sight to an inherited retinal disease could see well enough to navigate a maze after being treated with a new gene therapy, according to research presented today at AAO 2017, the 121st Annual Meeting ...

Study finds donor corneas can be safely preserved for longer period

November 10, 2017
Results from a large, national clinical trial show that corneal donor tissue can be safely stored for 11 days without negatively impacting the success of transplantation surgery to restore vision in people with diseases of ...

Exploring the genetics of glaucoma and retinal development

November 10, 2017
Guillermo Oliver, PhD, the Thomas D. Spies Professor of Lymphatic Metabolism, recently published two studies related to the eye, one on retinal formation and the other on the genetics behind glaucoma.

Scientists discover potential treatment to stop glaucoma in its tracks

November 6, 2017
Vision scientists at the University of California, Berkeley, and the University of Toronto have discovered that naturally occurring molecules known as lipid mediators have the potential to halt the progression of glaucoma, ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.