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<\/p>\nTy Sperle says he felt \u201cinsane shock\u201d after learning he\u2019d been cured of a rare genetic disease through a clinical trial using a new gene-editing treatment.<\/p>\n
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The B.C. man says he\u2019d started that day last year feeling hopeless, but the news he was cured filled him with indescribable happiness.<\/p>\n
Sperle is the first person known to have received and be cured by a treatment known as \u201cprime editing,\u201d in a breakthrough by U.S.-based Prime Medicine reported in the peer-reviewed New England Journal of Medicine last December.<\/p>\n
The 19-year-old, who lives in Kelowna, B.C., had been diagnosed with chronic granulomatous disease around age five, compromising his immune system.<\/p>\n
Dr. Stuart Turvey, a pediatric immunologist who treated Sperle for more than a decade during his stays at BC Children\u2019s Hospital in Vancouver,\u00a0says the disease leaves patients susceptible to infections that can turn serious, even fatal.<\/p>\n
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\u201cPeople with this disease don\u2019t live long and healthy lives,\u201d Turvey says.<\/p>\n
But the sequencing of the human genome has allowed researchers to identify \u201cspelling\u201d mistakes in people\u2019s DNA, he says, and \u201cthe era we\u2019re really in now is about translating those fundamental discoveries to helping patients.\u201d<\/p>\n
In a statement issued by the hospital, Turvey says he \u201cjumped\u201d at the opportunity to register Sperle for the clinical trial, which was offered at a limited number of sites. The only one in Canada was Montreal\u2019s Sainte-Justine university hospital, he says.<\/p>\n
Prior to the gene-editing treatment,\u00a0which Turvey calls a \u201cmiracle,\u201d he says Sperle was taking antibiotics and antifungal medications daily to help protect him.<\/p>\n
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\u201cBut that\u2019s not perfect,\u201d he says. \u201cSo every day there was a possibility sort of hanging over (Sperle) and his family that some serious infection might sneak in.\u201d<\/p>\n
Other patients with the same disease may undergo a combination of chemotherapy and a bone-marrow transplant to effectively wipe out their compromised immune system and build a new one using cells from a healthy donor, Turvey says.<\/p>\n
\u201cBut not everyone has an optimal donor to give those healthy cells, and (Sperle) was in a position where there was no good donor,\u201d he says.<\/p>\n
Chronic granulomatous disease is rare, he says, with just a handful of diagnoses over the two decades Turvey has worked at the hospital.<\/p>\n
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The gene-editing treatment involved extracting Sperle\u2019s own cells, fixing the \u201cspelling mistake\u201d and inserting the cells back into his body, where they multiplied, overriding his cells that hadn\u2019t been working properly, Turvey says.<\/p>\n
\u201cWhat that meant was, you know, his body wasn\u2019t going to reject those cells, those cells weren\u2019t going to attack his body because they were his cells, just fixed up.\u201d<\/p>\n
Turvey says it\u2019s a \u201cdream come true\u201d for his patient to be free of symptoms.<\/p>\n
Sperle, who\u2019s now a second-year science student at the University of B.C.\u2019s Okanagan campus, says he\u2019d been living with constant uncertainty.<\/p>\n
Being cured of the disease means he no longer has to live in fear of developing a serious or life-threatening infection, Sperle says.<\/p>\n
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