Baby in US is healed with world's first personalised gene-editing treatment
KJ had a rare genetic disorder, CPS1 deficiency, that affects just one in 1.3 million babies. PHOTOS: CHILDREN'S HOSPITAL OF PHILADELPHIA/FACEBOOK
Baby in US is healed with world's first personalised gene-editing treatment
Something was very wrong with Mr Kyle Muldoon and his wife Nicole's baby.
The doctors speculated. Maybe it was meningitis? Maybe sepsis?
They got an answer when KJ was only a week old. He had a rare genetic disorder, CPS1 deficiency, that affects just one in 1.3 million babies. If he survived, he would have severe mental and developmental delays and would eventually need a liver transplant. But half of all babies with the disorder die in the first week of life.
Doctors at Children's Hospital of Philadelphia offered the Muldoons comfort care for their baby, a chance to forgo aggressive treatments in the face of a grim prognosis.
'We loved him, and we didn't want him to be suffering,' Ms Muldoon said. But she and her husband decided to give KJ a chance.
Instead, KJ has made medical history. The baby, now nine and a 1/2 months old, became the first patient of any age to have a custom gene-editing treatment, according to his doctors. He received an infusion made just for him and designed to fix his precise mutation.
The investigators who led the effort to save KJ were presenting their work on May 15 at the annual meeting of the American Society of Cell and Gene Therapy and were also publishing it in the New England Journal of Medicine.
The implications of the treatment go far beyond treating KJ, said Dr Peter Marks, who was the Food and Drug Administration official overseeing gene-therapy regulation until he recently resigned over disagreements with Mr Robert F. Kennedy Jr., the secretary of health and human services. More than 30 million people in the United States have one of more than 7,000 rare genetic diseases. Most are so rare that no company is willing to spend years developing a gene therapy that so few people would need.
But KJ's treatment – which built on decades of federally funded research – offers a new path for companies to develop personalised treatments without going through years of expensive development and testing.
The method, said Dr Marks, who wrote an editorial accompanying the research paper, 'is, to me, one of the most potentially transformational technologies out there.'
It eventually could also be used for more common genetic disorders such as sickle cell disease, cystic fibrosis, Huntington's disease and muscular dystrophy. NYTIMES
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