‘Like a spelling mistake’: B.C. teen’s DNA ‘corrected’ to cure rare disease | Globalnews.ca
A doctor at B.C. Children’s Hospital says he was delighted to tell one of his patients that he had been cured of his condition.
Nineteen-year-old Kelowna, B.C., resident Ty Sperle was diagnosed at the age of five with chronic granulomatous disease.
“The helpful way to think about it is that we’re surrounded by bacteria and funguses and other things that can infect us,” Dr. Stuart Turvey, a pediatric immunologist at B.C. Children’s Hospital and a professor of pediatrics at UBC, told Global News.
“We have an immune system that I like to think of as a suit of armour that protects us and because of Ty’s issue, he really had a big hole in that suit of armour. And so different bacterial or fungal infections could sneak in really at any time and cause serious or even life-threatening infections. So it’s a tough disease to live with. People with this disease don’t live long healthy lives.
Turvey said that over the years, Sperle has had to take pills, antibiotics and antifungals in an attempt to boost his immune system, but he has still battled some very serious infections that are hard to treat and get under control.
“It’s a disease that I think you’re always looking over your shoulder, wondering, is today the day that that infection is going to sneak in?” he said.
Turvey said there have been other treatments in the past for chronic granulomatous disease, involving hematopoietic stem cell transplantation, or a bone marrow transplant, but only if there is an optimal healthy donor and Sperle didn’t have one.
When Turvey heard about a clinical trial by U.S.-based Prime Medicine being offered at a limited number of sites, he jumped at the chance to register Sperle.
The only site in Canada offering the trial was Montreal’s Sainte-Justine University Hospital.
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“I think one of the defining things about what we do at B.C. Children’s Hospital, and particularly in immunology, is have these very large global networks,” Turvey said.
“And so we are very connected globally. And I knew that there had been plans in the works for many years to start what we call a gene therapy trial for Ty’s condition. And so I think kept abreast of that and then I think it also shows that tackling these problems can’t be just one hospital or one province or even one country.”
Turvey described the process of curing Sperle involved changing his DNA.
“He was born with that, you could think of that like a spelling mistake that meant that his immune system wasn’t constructed properly and this prime editing technique is a little bit like a word processor, where they can go in and correct that spelling mistake in Ty’s very own cells and then return those cells to Ty’s body,” he said.
“And so he now has corrected cells that are his cells. So they’re not going to attack his body or they’re not going be rejected by his body. So this is really the ultimate treatment for this type of condition.”
Turvey said this is what pediatricians dream about — identifying life-threatening conditions and being able to cure them.
“The success of Ty’s treatment, this curative miracle, really builds on decades, even centuries of science research,” he said.
“We understood DNA, then we were able to sequence the human genome about 20 years ago. And now we’re in the era of being able to rewrite and edit that genome. And this technology that Ty benefited from was something that we call CRISPR-Cas9, or a version of that CRISPR technology that won the Nobel Prize quite recently.”
Turvey added that he is delighted that Sperle can now just go and live his life.
“For me, it means that I don’t have to worry with Ty about all those problems that could come down the line,” he said.
“So I can see Ty as a friend and watch him grow up as a healthy man and I don’t have to worry about all those potential difficulties. So yeah, I’m happy not to have to be Ty’s doctor anymore because he doesn’t have chronic granulomatous disease.
“I’d like to be his friend.”
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