{"id":137597,"date":"2025-05-16T02:53:00","date_gmt":"2025-05-16T02:53:00","guid":{"rendered":"https:\/\/quixnet.net\/wpinstance\/baby-is-healed-with-worlds-first-personalized-gene-editing-treatment-the-new-york-times\/"},"modified":"2025-05-16T02:53:00","modified_gmt":"2025-05-16T02:53:00","slug":"baby-is-healed-with-worlds-first-personalized-gene-editing-treatment-the-new-york-times","status":"publish","type":"post","link":"https:\/\/quixnet.net\/wpinstance\/baby-is-healed-with-worlds-first-personalized-gene-editing-treatment-the-new-york-times\/","title":{"rendered":"Baby Is Healed With World\u2019s First Personalized Gene-Editing Treatment – The New York Times"},"content":{"rendered":"

The technique used on a 9\u00bd-month-old boy with a rare condition has the potential to help people with thousands of other uncommon genetic diseases.
KJ Muldoon was born with a rare genetic disorder, CPS1 deficiency, that affects just one in 1.3 million babies.<\/span>Credit…<\/span>Muldoon Family<\/span><\/span><\/span>
Supported by
By <\/span>Gina Kolata<\/a>
Something was very wrong with Kyle and Nicole Muldoon\u2019s 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<\/a>, 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\u2019s Hospital of Philadelphia offered the Muldoons comfort care for their baby, a chance to forgo aggressive treatments in the face of a grim prognosis.
\u201cWe loved him, and we didn\u2019t want him to be suffering,\u201d Ms. Muldoon said. But she and her husband decided to give KJ a chance.
Instead, KJ has made medical history. The baby, now 9 \u00bd 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 are presenting their work on Thursday at the annual meeting of the American Society of Gene & Cell Therapy, and are also publishing it in the New England Journal of Medicine<\/a>.
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 Robert F. Kennedy Jr.<\/a>, 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\u2019s treatment \u2014 which built on decades of federally funded research<\/a> \u2014 offers a new path for companies to develop personalized treatments without going through years of expensive development and testing.
Illnesses like KJ\u2019s are the result of a single mutation \u2014 an incorrect DNA letter among the three billion in the human genome. Correcting it requires pinpoint targeting<\/a> in an approach called base editing<\/a>.
To accomplish that feat, the treatment is wrapped in fatty lipid molecules to protect it from degradation in the blood on its way to the liver, where the edit will be made. Inside the lipids are instructions that command the cells to produce an enzyme that edits the gene. They also carry a molecular GPS \u2014 CRISPR \u2014 which was altered to crawl along a person\u2019s DNA until it finds the exact DNA letter that needs to be changed.
While KJ\u2019s treatment was customized so CRISPR found just his mutation, the same sort of method could be adapted and used over and over again to fix mutations in other places on a person\u2019s DNA. Only the CRISPR instructions leading the editor to the spot on the DNA with the mutation would need to be changed. Treatments would be cheaper, \u201cby an order of magnitude at least,\u201d Dr. Marks said.
The method, said Dr. Marks, who wrote an editorial<\/a> accompanying the research paper, \u201cis, to me, one of the most potentially transformational technologies out there.\u201d
It eventually could also be used for more common genetic disorders like sickle cell disease, cystic fibrosis, Huntington\u2019s disease and muscular dystrophy.
And, he said, it \u201ccould really transform health care.\u201d
The story of KJ\u2019s bespoke gene-editing treatment began on the evening of Aug. 8, when Dr. Kiran Musunuru, a gene-editing researcher at the University of Pennsylvania got an email from Dr. Rebecca Ahrens-Nicklas at the Children\u2019s Hospital of Philadelphia. A baby had been born, and genetic testing showed he had CPS1 deficiency.
Could he save the baby?
Dr. Musunuru had begun investigating the use of gene editing for fairly common gene mutations.
Developing a gene editor to treat patients is a deliberate process that can take years. But KJ did not have years to wait \u2014 perhaps as few as six months before a mounting risk of severe brain damage or death.
\u201cAt this point, the clock starts in my mind,\u201d Dr. Musunuru said. \u201cThis is real life. This is not hypothetical.\u201d
KJ\u2019s disease is caused by an inability to rid the body of ammonia, a byproduct of protein metabolism. Ammonia builds up in the blood and crosses into the brain. His doctors put him on a diet that severely restricted protein \u2014 just enough for him to grow. He also had a medicine, glycerol phenylbutyrate, that helped remove the ammonia in his blood. But he still was at high risk for brain injury or death. Any illness or infection could make his ammonia levels soar and cause irreversible damage to his brain.
KJ lived at the hospital under 24-hour care.
Building a gene-editing system for the Muldoons\u2019 baby and testing it was not easy.
\u201cThere was a lot of shooting from the hip,\u201d Dr. Musunuru said.
He began working with Fyodor Urnov at the University of California, Berkeley, who made sure there were no unexpected and deleterious gene edits elsewhere in the DNA. Dr. Urnov is a part of an academic collaboration with Danaher Corporation, a company capable of producing the gene editor for KJ at a standard that would allow it to be used in a patient.
Danaher in turn collaborated with two other companies it owned, two additional biotechnology firms and another research institute, said Sadik Kassim, its chief technology officer for genomic medicines.
\u201cAt every step of the process, we were always expecting someone to say, \u2018No, sorry,\u2019\u201d Dr. Kassim said. \u201cAnd that would be the end of the story.\u201d But his fears were unfounded. Danaher and the other companies charged only for the raw materials to make the drug, he added.
The F.D.A. also smoothed regulatory approval of the treatment, Dr. Ahrens-Nicklas said.
Dozens of researchers put all else aside for months.
In Berkeley, Dr. Urnov said, \u201cscientists burned a vat of midnight oil on this the size of San Francisco Bay.\u201d He added that \u201csuch speed to producing a clinic-grade CRISPR for a genetic disease has no precedent in our field. Not even close.\u201d
David Liu of Harvard, whose lab invented the gene-editing method used to fix KJ\u2019s mutation, said the speed was \u201castounding.\u201d
\u201cThese steps traditionally take the better part of a decade, if not longer,\u201d he said.
Only when the gene-editing solution was in hand and the F.D.A. approved the researchers\u2019 work did Dr. Ahrens-Nicklas approach KJ\u2019s parents.
\u201cOne of the most terrifying moments was when I walked into the room and said, \u2018I don\u2019t know if it will work but I promise I will do everything I can to make sure it is safe,\u2019\u201d she said.
On the morning of Feb. 25, KJ received the first infusion, a very low dose because no one knew how the baby would respond. He was in his room, in the crib where he had lived his entire life. He was 6 months old and in the seventh percentile for his weight.
Dr. Musunuru monitored the two-hour infusion, feeling, he said, \u201cboth excited and terrified.\u201d
KJ slept through it.
Within two weeks, KJ was able to eat as much protein as a healthy baby. But he still needed the medication to remove the ammonia from his blood \u2014 a sign that the gene editor had not yet corrected the DNA in every affected cell.
The doctors gave him a second dose 22 days later.
They were able to halve the medication dose. He got a few viral illnesses in that time, which normally would have triggered terrifying surges in his ammonia levels. But, Dr. Ahrens-Nicklas said, \u201che sailed through them.\u201d
A week and a half ago, the team gave KJ a third dose.
It is too soon to know if he can stop taking the medication completely, but the dosage is greatly reduced. And he is well enough for the team to start planning to discharge him home from the hospital. He is meeting developmental milestones and his weight is now in the 40th percentile for his age, but it is not yet known if he\u2019ll be spared a liver transplant.
The result \u201cis a triumph for the American peoples\u2019 investment in biomedical research,\u201d Dr. Urnov said.
The researchers emphasized the role government funding played in the development.
The work, they said, began decades ago with federal funding for basic research on bacterial immune systems. That led eventually, with more federal support, to the discovery of CRISPR. Federal investment in sequencing the human genome made it possible to identify KJ\u2019s mutation. U.S. funding supported Dr. Liu\u2019s lab and its editing discovery. A federal program to study gene editing supported Dr. Musunuru\u2019s research. Going along in parallel was federally funded work that led to an understanding of KJ\u2019s disease.
\u201cI don\u2019t think this could have happened in any country other than the U.S.,\u201d Dr. Urnov said.
Those who worked on saving KJ were proud, Dr. Urnov said.
\u201cWe all said to each other, \u2018This is the most significant thing we have ever done.\u2019\u201d
An earlier version of this article misstated the name of a society. It is the American Society of Gene & Cell Therapy, not Cell & Gene Therapy.
When we learn of a mistake, we acknowledge it with a correction. If you spot an error, please let us know at nytnews@nytimes.com<\/a>.<\/span>Learn more<\/a>
Gina Kolata reports on diseases and treatments, how treatments are discovered and tested, and how they affect people.
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The technique used on a 9\u00bd-month-old boy with a rare condition has the potential to help people with thousands of other uncommon genetic diseases.KJ Muldoon was born with a rare genetic disorder, CPS1 deficiency, that affects just one in 1.3 million babies.Credit…Muldoon FamilySupported byBy Gina KolataSomething was very wrong with Kyle and Nicole Muldoon\u2019s baby.The […]<\/p>\n","protected":false},"author":1,"featured_media":137598,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","footnotes":""},"categories":[10],"tags":[],"class_list":["post-137597","post","type-post","status-publish","format-standard","has-post-thumbnail","category-world","entry"],"_links":{"self":[{"href":"https:\/\/quixnet.net\/wpinstance\/wp-json\/wp\/v2\/posts\/137597","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/quixnet.net\/wpinstance\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/quixnet.net\/wpinstance\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/quixnet.net\/wpinstance\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/quixnet.net\/wpinstance\/wp-json\/wp\/v2\/comments?post=137597"}],"version-history":[{"count":0,"href":"https:\/\/quixnet.net\/wpinstance\/wp-json\/wp\/v2\/posts\/137597\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/quixnet.net\/wpinstance\/wp-json\/wp\/v2\/media\/137598"}],"wp:attachment":[{"href":"https:\/\/quixnet.net\/wpinstance\/wp-json\/wp\/v2\/media?parent=137597"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/quixnet.net\/wpinstance\/wp-json\/wp\/v2\/categories?post=137597"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/quixnet.net\/wpinstance\/wp-json\/wp\/v2\/tags?post=137597"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}