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

October 12, 2017 by Steven Reinberg, Healthday Reporter

(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.

Replacing a nonworking gene with a new one is opening a new world for children and teens with the inherited retinal disease called Leber congenital amaurosis.

"This is a gene therapy that can restore some vision to people who have very limited vision or no vision due to the mutation in the RPE65 gene, and as such, it's a great breakthrough," said Stephen Rose, chief research officer at the Foundation Fighting Blindness.

For those who have already received the therapy, the treatment has been life-changing.

Eleven-year-old Cole Carper got the treatment when he was 8, according to the Associated Press. Afterwards, "I looked up and said, 'What are those light things?' And my mom said, 'Those are stars,'" he said.

His 13-year-old sister, Caroline, was treated when she was 10. "I saw snow falling and rain falling. I was completely surprised," she told the wire service. "I thought of water on the ground or snow on the ground. I never thought of it falling."

If approved by the FDA advisory panel, the treatment would be on its way to becoming the first gene therapy approved for an inherited disease, said Rose. His foundation helped fund the research that led to the treatment. The FDA typically follows the advice of its expert panels.

Only one other gene therapy has so far met FDA approval—a cancer treatment that the agency sanctioned in August.

This type of vision loss is rare and affects about 1,000 people in the United States, Rose said. "But for these individuals who are essentially blind, it's a huge impact," he said.

In total, about 200,000 Americans have some type of inherited disease that causes blindness involving some 250 different genes, Rose said.

"We are not restoring 20/20 vision," he said. "We are restoring functional vision."

This means that people can be mobile without the need for a guide dog or a cane, Rose said.

Rose said this therapy treats only this one type of vision loss. "There are 22 different genes that can cause Leber congenital amaurosis—RPE65 is only one of them," he said.

The treatment, voretigene neparvovec (Luxturna), was developed by Philadelphia-based Spark Therapeutics.

Clinical trials using gene therapy, drugs or cell therapy to treat other types of inherited visions are currently going on, Rose said.

This new treatment is proof that replacing a gene in the eye can restore some vision, he said, and along with other therapies, offers hope for people with previously untreatable inherited vision loss.

It has been tried on kids as young as 4, Rose said. "The earlier you treat the better," he said. "Ideally, you would treat people as early as possible and prevent any retinal degeneration."

Whether the treatment will last a lifetime isn't known, Rose said. But people who received the treatment in early trials more than 10 years ago continue to have their sight, he noted.

Dr. Jean Bennett, a professor of ophthalmology at the University of Pennsylvania in Philadelphia, is one of the researchers who is actually giving the treatment.

Using a harmless virus to carry a new, working RPE65 gene, doctors perform microscopic surgery and, with a tube about the width of a human eyelash, implant the new gene into cells in the retina, she explained.

For maximum vision improvement, the procedure has to be done in each eye, Bennett said.

"We think this same procedure would be effective for other genes," she said. "It would just require that the gene we used be swapped out and replaced with a different gene."

Dr. Zenia Aguilersa, a pediatric ophthalmologist at Nicklaus Children's Hospital in Miami, said that the FDA is taking a big step in gene therapy for these genetic eye diseases.

"If we can treat the disease early, we may prevent blindness in all these kids," Aguilersa said.

It isn't known how much the treatment will cost or if it will be covered by insurance, Rose said. But the foundation believes that everyone who needs the treatment should get it.

"Our goal is that there will be treatments for individuals who need these treatments such that nobody will ever have to hear: 'You have retinal degeneration, get a guide dog, learn braille, get a cane,'" Rose said.

Explore further: Seeing hope: FDA panel considers gene therapy for blindness (Update)

More information: Jean Bennett, M.D., Ph.D., professor, ophthalmology, University of Pennsylvania, Philadelphia; Stephen Rose, Ph.D., chief research officer, Foundation Fighting Blindness; Zenia Aguilersa, M.D., pediatric ophthalmologist, Nicklaus Children's Hospital, Miami

For more on inherited retinal disease, visit the American Academy of Ophthalmology.

Related Stories

Seeing hope: FDA panel considers gene therapy for blindness (Update)

October 9, 2017
A girl saw her mother's face for the first time. A boy tore through the aisles of Target, marveling at toys he never knew existed. A teen walked onto a stage and watched the stunned expressions of celebrity judges as he wowed ...

One-two punch could be key in treating blindness

April 9, 2013
Researchers have discovered that using two kinds of therapy in tandem may be a knockout combo against inherited disorders that cause blindness. While their study focused on man's best friend, the treatment could help restore ...

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.

FDA recommends approval for Second Sight's Argus II retinal prosthesis system in the US

October 3, 2012
On Friday September 28, a U.S. Food and Drug Administration (FDA) Ophthalmic Devices Advisory Panel unanimously voted 19-0 that the probable benefit of the Argus II Retinal Prosthesis System outweighs the risks to health, ...

Rare feline genetic disorders identified through whole genome sequencing

May 11, 2017
Whole genome sequencing (WGS), which is the process of determining an organism's complete DNA sequence, can be used to identify DNA anomalies that cause disease. Identifying disease-causing DNA abnormalities allows clinicians ...

Recommended for you

Peers' genes may help friends stay in school, new study finds

January 18, 2018
While there's scientific evidence to suggest that your genes have something to do with how far you'll go in school, new research by a team from Stanford and elsewhere says the DNA of your classmates also plays a role.

A centuries-old math equation used to solve a modern-day genetics challenge

January 18, 2018
Researchers developed a new mathematical tool to validate and improve methods used by medical professionals to interpret results from clinical genetic tests. The work was published this month in Genetics in Medicine.

Can mice really mirror humans when it comes to cancer?

January 18, 2018
A new Michigan State University study is helping to answer a pressing question among scientists of just how close mice are to people when it comes to researching cancer.

Epigenetics study helps focus search for autism risk factors

January 16, 2018
Scientists have long tried to pin down the causes of autism spectrum disorder. Recent studies have expanded the search for genetic links from identifying genes toward epigenetics, the study of factors that control gene expression ...

Group recreates DNA of man who died in 1827 despite having no body to work with

January 16, 2018
An international team of researchers led by a group with deCODE Genetics, a biopharmaceutical company in Iceland, has partly recreated the DNA of a man who died in 1827, despite having no body to take tissue samples from. ...

The surprising role of gene architecture in cell fate decisions

January 16, 2018
Scientists read the code of life—the genome—as a sequence of letters, but now researchers have also started exploring its three-dimensional organisation. In a paper published in Nature Genetics, an interdisciplinary research ...

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.