Jack's story: Treating retinitis pigmentosa with ocular gene therapy

Basketball games at dusk. Swimming in the evening. Riding a bike home from a friend’s house. For some children, these are staples of childhood that help us build close connections with friends as we learn and grow. But for Jack Hogan, born with a severe, early onset form of inherited retinal degeneration (IRD), many of these adventures felt out of reach.

That is, until his parents met Eric Pierce, M.D., Ph.D., Director of the Ocular Genomics Institute at Mass Eye and Ear.

What is inherited retinal degeneration?

Inherited retinal degenerations (IRDs) affect the health of the light-sensitive retinal tissue in the back of the eye and cause progressive vision loss. For Jack, this had manifested as a struggle to see at night, trouble with peripheral vision, and weakened eyesight. Many patients with severe, early onset IRD become legally blind by their 20s or 30s. And while there is no cure for the disorder, many experts—including Dr. Pierce—are working to develop innovative treatments.

A promising clinical trial

In 2010, Jack’s parents met Dr. Pierce by chance at a Foundation Fighting Blindness dinner in New York City. When they met, they were astounded to learn that he had been working on a promising clinical trial for patients with one genetic form of severe, early onset IRD. After this initial, promising connection, Jack became a patient of Dr. Pierce’s.

Years later, in 2017, the Hogan family received a phone call from Mass Eye and Ear: The Food and Drug Administration (FDA) had approved a gene therapy drug and procedure for patients like Jack. Mass Eye and Ear was just one of nine U.S. medical centers certified to offer this gene therapy—and the only center certified to do so in New England.

And in 2018, Jack would become the first patient in the U.S. to receive the FDA-approved therapy.

Enter: Ocular gene therapy

Mutations in more than 270 genes can cause IRDs. Jack was born with an IRD associated specifically with RPE65 gene mutations. The RPE65 gene mutations that cause retinal degeneration disrupt RPE65 protein function. This leads to vision loss by impairing the chemistry of the molecules that absorb light, the visual cycle. As the Hogans learned, the FDA-approved gene therapy available to Jack was specifically developed to target a deficiency that was caused by those same mutations and, in turn, negatively impacted his vision.

By injecting a modified virus that encodes a normal copy of the RPE65 gene into a patient’s eyes, this ocular gene therapy showed promise as a treatment that could enhance and protect Jack’s sight.

Making history

In March of 2018, Jack underwent ocular gene therapy administered by Jason Comander, M.D., Ph.D., Director of the Inherited Retinal Disorders Service, and his team at Mass Eye and Ear. And just two months later, at a follow-up appointment, the Mass Eye and Ear team had measurable proof that Jack’s vision, and his life, were changing for the better.

Today, Jack is living those adventures that are so important to childhood. He’s able to see better in movie theaters. He’s playing games with his friends into the night. And, for the first time, he’s riding his bike in the dark.

“He really is a different kid,” said Jack’s mother, Jeanette Hogan. “He’s doing his homework on his own. Before, he was always struggling, because he couldn’t see. A lot of the things that we take for granted he couldn’t do, and now he can, which is wonderful. That’s all we really wanted for him.”

And with his team continuing to monitor his progress and condition, Jack and his family have renewed hope for a bright, clear future.