7-Year-Old Receives New FDA-Approved Retina Gene Therapy

With new treatment, doctors hope to slow the progression of rare genetic eye disease and prevent blindness.

10:00 AM

Author | Helen Korneffel

Zion sitting on steps outside his home with his parents.
Zion and his parents at their home in Montrose, Mich.

When Zion Grant was 3 months old his mother Daisy Dodd noticed he wasn't tracking her with his eyes. Zion would fixate on a light in the room, but not on her face.

Genetic testing confirmed Zion had Leber congenital amaurosis, a rare eye condition that usually starts in childhood and worsens over time. Cells in the eye crucial for vision diminish, and by age 20, most with this form of retinal dystrophy are legally blind.

But Zion's diagnosis would come during a period of hope and progress in the field of gene therapy aimed at curing blindness.

Progress in treating Leber congenital amaurosis is something physicians and families have long worked for through research and clinical trials.

Leber congenital amaurosis am affects the retina, the tissue in the back of the eye that detects light and color. The condition occurs in 2 to 3 out of 100,000 newborns in the United States, according to the National Institutes of Health.

Vision problems associated with the eye condition include night blindness and diminished visual fields.

MORE FROM MICHIGAN: Sign up for our weekly newsletter

With the boy's diagnosis in mind, in 2014, Zion's family moved from Tennessee to Michigan to establish a relationship with the retinal dystrophy clinic at the University of Michigan Kellogg Eye Center, where clinical trials were underway and new treatments were on the horizon.

Zion Grant playing outside at his home.

Kellogg is one of just 10 centers in the country to offer Luxturna, which in 2017 became the first gene therapy approved by the U.S. Food and Drug and Administration for an inherited disease.

In clinical trials, the treatment produced dramatic results, restoring the ability of patients to see things they couldn't see before, like stars in the night sky and their parents' faces.  

SEE ALSO: Gene Therapy Treatment Targets Rare Mutation Tied to Blindness

"Moving back to Michigan and being introduced to the new therapy was a sign that we were in the right place," says Dodd. "Our care team at Kellogg gave Zion the chance to see like a normal kid again, and we couldn't be more grateful."

Cagri Besirli, M.D., Ph.D. is Zion's doctor and a Kellogg ophthalmologist who specializes in pediatric retinal illnesses.

"These therapies are provided to our youngest patients so they do not have to endure more vision loss later in life," says Besirli. "For many families, this genetic therapy gives them hope for the future."

The gene therapy process

Gene therapy provides a working copy of a gene responsible for producing a protein that makes light receptors work in the eye.

The gene therapy approved by the FDA was developed for those with a mutation in the RPE65 gene. Treatment involves surgery to inject a functioning copy of the gene directly under the retina using a fine needle. Zion received the first injection in early January and the second later that month.

"I knew I had to do what was best for my kid, and giving him the best sight possible was what Zion needed the most," says Dodd. "That's why we went forward with the Luxturna treatment."

Zion undergoing an eye exam at Kellogg Eye Center.

Kari Branham, M.S., a genetic counselor at Kellogg, worked with Zion's family to help them understand the genetic basis for Zion's condition.

SEE ALSO: Retinitis Pigmentosa in Children: 5 Facts Families Should Know

"We have seen such amazing progress with these conditions over the last 15-20 years," says Branham. "We used to tell patients and their families that we would have to wait and see what happens, but now we can actually do something to help."

By going through the gene therapy process, Branham says the team is hopeful that this has changed Zion's prognosis.

The treatment is designed to stop or slow the death of specialized cells in the retina, called photoreceptors, that send visual information to the brain.

"Patients who have Leber congenital amaurosis have night blindness," says Besirli. "One of the first treatment effects after receiving Luxturna is that (patients) are telling us that they function much better in dark.

LISTEN UP: Add the new Michigan Medicine News Break to your Alexa-enabled device, or subscribe to our daily updates on iTunes, Google Play and Stitcher.

"They can play outside much longer, they can navigate around the house and don't need nightlights anymore and can participate in indoor sports. That's been a huge change in their lives."

Changing the trajectory

Seven months after treatment, Zion, now age 7, and his family are back to their normal routine in Montrose, Mich., and monitor his progress during follow-up appointments at Kellogg.

Zion says he's looking forward to playing football and, with improved vision -- playing outside at night with his brothers.

"We hope that with Zion we have changed the trajectory for him to the point that in his 20s he won't have significant vision loss we see with him now," says Branham.


More Articles About: Eye Health Eye Care & Vision CS Mott Children's Hospital Kellogg Eye Center Genetic Disorders Gene Therapy genetic counseling Hospitals & Centers
Health Lab word mark overlaying blue cells
Health Lab

Explore a variety of healthcare news & stories by visiting the Health Lab home page for more articles.

Media Contact Public Relations

Department of Communication at Michigan Medicine

[email protected]

734-764-2220

Stay Informed

Want top health & research news weekly? Sign up for Health Lab’s newsletters today!

Subscribe
Featured News & Stories Headshot of Shahzad Mian, M.D.
News Release
Michigan Medicine names new chair of Department of Ophthalmology and Visual Sciences
Shahzad I. Mian, M.D., has been appointed chair of the Department of Ophthalmology and Visual Sciences and the F. Bruce Fralick Professor of Ophthalmology in the Medical School and the Director of the W.K. Kellogg Eye Center
Breaking Down Mental Health on blue background and text inside a yellow head graphic
Breaking Down Mental Health
Depression and Sleep
In this episode, learn to understand the interplay between depression and how cognitive behavioral therapy can improve sleep.
Provider takes a pulse oximetry reading from a patient's finger
Health Lab
Inaccurate pulse oximeter readings could limit transplants, heart pumps for Black patients with heart failure
Racially biased readings of oxygen levels in the blood using pulse oximeters may further limit opportunities for Black patients with heart failure to receive potentially lifesaving treatments, such as heart pumps and transplants
Illustration of neuron cell
Health Lab
Two genes linked to autism implicated in brain cell connectivity
A new study links two autism-associated genes together for the first time, potentially revealing a mechanism behind brain changes seen in people with autism.
art work with flower circle green teal orange yellow pink on display
Health Lab
Quiet strength of nature heals those dealing with cancer
An art exhibition explores the physical and emotional complexities of the cancer journey by combining anatomy with nature.
doctor heart floating stethoscope
Health Lab
AI model predicts death, complications for patients undergoing angioplasty, stents
Researchers at Michigan Medicine developed an AI-driven algorithm that accurately predicts death and complications after PCI — which could emerge as a tool for clinicians as they determine treatment for blocked heart arteries.