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Gene Therapy May Help Against Rare Blinding Disease

Early study saw improvement in six patients with choroideremia

WebMD News from HealthDay

Findings shed light on how people with macular

By Dennis Thompson

HealthDay Reporter

THURSDAY, Jan. 16, 2014 (HealthDay News) -- A new gene therapy that successfully treated a rare eye disease in clinical trials could prove the key to preventing more common inherited causes of blindness, researchers say.

In six male patients, doctors used a virus to repair a defective gene that causes choroideremia, a degenerative eye disease that can lead to complete blindness by middle age, according to a clinical trial report published online Jan. 16 in The Lancet.

Vision improved for all the patients following the gene therapy, and particularly for two patients with advanced choroideremia, said lead author Robert MacLaren of the Nuffield Laboratory of Ophthalmology at the University of Oxford, and a consultant surgeon at the Oxford Eye Hospital, in England.

"In truth, we did not expect to see such dramatic improvements in visual acuity and so we contacted both patients' home opticians to get current and historical data on their vision in former years, long before the gene therapy trial started," MacLaren said in a university news release. "These readings confirmed exactly what we had seen in our study and provided an independent verification."

While choroideremia is a rare disease, affecting about one in every 50,000 people, doctors believe the process used to treat it could be turned toward more common inherited eye disorders, such as macular degeneration or retinitis pigmentosa.

"This is something that we've been trying to accomplish for years in retinal science, and it's very encouraging," said Dr. Mark Fromer, an ophthalmologist at Lenox Hill Hospital, in New York City.

Fromer, who was not involved with the new research, predicted that gene therapy could in the future be used to prevent blindness by fixing defective genes in patients before something like macular degeneration can even take root.

"We'll go from putting a Band-Aid on the lesion to preventing it from happening. This is a new pathway to fix things before they get broken," said Fromer, who is also the eye surgeon for the National Hockey League's New York Rangers

Choroideremia is caused by defects in the CHM gene on the X chromosome, which explains why it usually affects boys, according to the background information from the journal. It causes the pigment cells in the eye's retina to die off, progressively shrinking the retina and slowly reducing vision.

The first signs tend to be seen in boys in late childhood, with the disease slowly progressing until vision is lost. There is currently no cure.

MacLaren and his colleagues engineered a virus that would infect the patient's retina but, instead of spreading disease, would instead release a DNA payload that would replace the defective gene with a working copy of the gene.

The phase 1 clinical trial involved six patients aged 35 to 63 -- two with excellent vision, two with good vision and two with damaged vision, according to the case report. In an operation similar to cataract surgery, doctors surgically detached the patients' retinas and then injected the virus underneath using a very fine needle.

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