BC human cured of rare disease is world’s first thanks to new gene editing technology

Ty Sperle said he felt an “incredible shock” after learning he had been cured of a rare genetic disease through a clinical trial using a new gene-editing treatment.

The BC native said he started that day last year feeling hopeless, but the news that he had recovered gave him indescribable joy.

Sperle is the first person known to have received and been cured with a treatment known as “prime editing,” a breakthrough by US-based Prime Medicine, which was reported in the peer-reviewed New England Journal of Medicine last December.

The 19-year-old, who lives in Kelowna, BC, was diagnosed with chronic granulomatous disease at the age of five, compromising his immune system.

Stuart Turvey, a pediatric immunologist who treated Sperle for more than a decade during his stay at BC Children’s Hospital in Vancouver, said the disease makes patients vulnerable to infections that can be serious, even fatal.

“People with this disease don’t live long and healthy lives,” Turvey said.

But sequencing of the human genome has allowed researchers to identify “spelling” errors in human DNA, he said, and “the era we are in now is translating those fundamental discoveries to help patients.”

In a statement released by the hospital, Turvey said he “jumped at” the opportunity to enroll Sperle in the clinical trial, which was offered at a limited number of locations. The only one in Canada is Sainte-Justine university hospital in Montreal, he said.

Before gene editing treatment, In what Turvey called a “miracle,” he said Sperle took antibiotics and antifungal medication every day to help protect him.

“But it’s not perfect,” he said. “So every day there is a chance that Sperle and his family will get a serious infection.”

Other patients with the same disease may undergo a combination of chemotherapy and a bone marrow transplant to effectively wipe out their weakened immune system and build a new immune system using cells from a healthy donor, Turvey said.

“But not everyone has an optimal donor to provide those healthy cells, and (Sperle) was in a position where there were no good donors,” he said.

Chronic granulomatous disease is rare, he said, with only a handful of diagnoses in Turvey’s two decades at the hospital.

The gene-editing treatment involved extracting Sperle’s own cells, correcting the “spelling error” and inserting the cells back into his body, where they multiplied, replacing his cells that weren’t functioning properly, Turvey said.

“What that means is, you know, his body won’t reject those cells, they won’t attack his body because they’re his cells, just repaired.”

Turvey said it is a “dream come true” for his patients to be symptom-free.

Sperle, now a second-year science student at the University of BC’s Okanagan campus, says he lives in a constant state of uncertainty.

Recovering from the disease means he no longer has to live in fear of developing a serious or life-threatening infection, Sperle said.

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“I also love camping and you know, it used to be risky, like there was a lot of bacteria in the woods… so now I can do it without those risks,” he said.

“I’ve been on medication with pills and it’s all gone, so I don’t need to take medication anymore, which is amazing,” he added.

Sperle said he was “very nervous” to be the first patient to undergo the treatment.

“When they put the transplant device in my body, I was very stressed, unimaginable stress,” he told The Canadian Press in an interview.

But he trusts his doctors, he said.

Sperle said her mother was with her in a Montreal hospital after undergoing gene-editing treatment, but her mother was not in the room when Sperle first heard that she had recovered.

She reacted with “instant tears” of joy when he told her, she said.

Sperle said the success of his treatment could provide hope for sufferers of other genetic diseases, especially as technology advances in the coming years.

Turvey said certain diseases may be rare, but taken as a whole, they are common. “For us, at BC Children’s Hospital, we estimate that about one in three people who are hospitalized actually have a rare disease.”

He said Sperle’s case proves that gene-editing technology can be curative. However, this drug is not yet routinely available to patients.

“(The next step), and this is a complicated step, is to figure out how to make this happen across our health care systems, and that is still an ongoing effort.”

In a statement released by BC Children’s Hospital, the province’s health minister, Josie Osborne, said Sperle’s successful treatment was a “milestone” that shows the power of public health services, research and global collaboration.

“This provides hope for families facing rare conditions and shows how smart investments in science can lead to life-changing treatments.”