{"id":42387,"date":"2025-05-16T04:08:13","date_gmt":"2025-05-16T09:08:13","guid":{"rendered":"https:\/\/ustower.net\/?p=42387"},"modified":"2025-05-16T04:08:16","modified_gmt":"2025-05-16T09:08:16","slug":"a-pennsylvania-baby-is-the-first-to-successfully-receive-personalized-gene-therapy","status":"publish","type":"post","link":"https:\/\/ustower.net\/?p=42387","title":{"rendered":"A Pennsylvania baby is the first to successfully receive personalized gene therapy"},"content":{"rendered":"\n

A baby born with a rare and dangerous genetic disease<\/a> is growing and thriving after getting an experimental gene editing treatment<\/a> made just for him.<\/p>\n\n\n\n

Researchers described the case in a new study, saying he\u2019s among the first to be successfully treated with a custom therapy that seeks to fix a tiny but critical error in his genetic code that kills half of affected infants. Though it may be a while before similar personalized treatments are available for others, doctors hope the technology can someday help the millions left behind even as genetic medicine has advanced because their conditions are so rare.<\/p>\n\n\n\n

\u201cThis is the first step towards the use of gene editing therapies to treat a wide variety of rare genetic disorders for which there are currently no definitive medical treatments,\u201d said Dr. Kiran Musunuru, a University of Pennsylvania gene editing expert who co-authored the study published Thursday in the New England Journal of Medicine.<\/p>\n\n\n\n

The baby, KJ Muldoon of Clifton Heights, Pennsylvania, is one of 350 million people worldwide with rare diseases, most of which are genetic. He was diagnosed shortly after birth with severe CPS1 deficiency, estimated by some experts to affect around one in a million babies. Those infants lack an enzyme needed to help remove ammonia from the body, so it can build up in their blood and become toxic. A liver transplant is an option for some.<\/p>\n\n\n\n

Knowing KJ\u2019s odds, parents Kyle and Nicole Muldoon, both 34, worried they could lose him.<\/p>\n\n\n\n

\u201cWe were, like, you know, weighing all the options, asking all the questions for either the liver transplant, which is invasive, or something that\u2019s never been done before,\u201d Nicole said.<\/p>\n\n\n\n

\u201cWe prayed, we talked to people, we gathered information, and we eventually decided that this was the way we were going to go,\u201d her husband added.<\/p>\n\n\n\n

Within six months, the team at Children\u2019s Hospital of Philadelphia and Penn Medicine, along with their partners, created a therapy designed to correct KJ\u2019s faulty gene. They used CRISPR, the gene editing tool that won its inventors the Nobel Prize<\/a> in 2020. Instead of cutting the DNA strand like the first CRISPR approaches, doctors employed a technique that flips the mutated DNA \u201cletter\u201d \u2014 also known as a base \u2014 to the correct type. Known as \u201cbase editing,\u201d it reduces the risk of unintended genetic changes.<\/p>\n\n\n\n

It\u2019s \u201cvery exciting\u201d that the team created the therapy so quickly, said gene therapy researcher Senthil Bhoopalan at St. Jude Children\u2019s Research Hospital in Memphis, who wasn\u2019t involved in the study. \u201cThis really sets the pace and the benchmark for such approaches.\u201d<\/p>\n\n\n\n

In February, KJ got his first IV infusion with the gene editing therapy, delivered through tiny fatty droplets called lipid nanoparticles that are taken up by liver cells.<\/p>\n\n\n\n

While the room was abuzz with excitement that day, \u201che slept through the entire thing,\u201d recalled study author Dr. Rebecca Ahrens-Nicklas, a gene therapy expert at CHOP.<\/p>\n\n\n\n

After follow-up doses in March and April, KJ has been able to eat more normally and has recovered well from illnesses like colds, which can strain the body and exacerbate symptoms of CPS1. The 9 \u00bd-month old also takes less medication.<\/p>\n\n\n\n

Considering his poor prognosis earlier, \u201cany time we see even the smallest milestone that he\u2019s meeting \u2014 like a little wave or rolling over \u2014 that\u2019s a big moment for us,\u201d his mother said.<\/p>\n\n\n\n

Still, researchers caution that it\u2019s only been a few months. They\u2019ll need to watch him for years.<\/p>\n\n\n\n

\u201cWe\u2019re still very much in the early stages of understanding what this medication may have done for KJ,\u201d Ahrens-Nicklas said. \u201cBut every day, he\u2019s showing us signs that he\u2019s growing and thriving.\u201d<\/p>\n\n\n\n

Researchers hope what they learn from KJ will help other rare disease patients.<\/p>\n\n\n\n

Gene therapies, which can be extremely expensive to develop, generally target more common disorders in part for simple financial reasons: more patients mean potentially more sales, which can help pay the development costs and generate more profit. The first CRISPR therapy approved by the U.S. Food and Drug Administration<\/a>, for example, treats sickle cell disease, a painful blood disorder affecting millions worldwide.<\/p>\n\n\n\n

Musunuru said his team\u2019s work \u2014 funded in part by the National Institutes of Health<\/a> \u2014 showed that creating a custom treatment doesn\u2019t have to be prohibitively expensive. The cost was \u201cnot far off\u201d from the $800,000-plus for an average liver transplant and related care, he said.<\/p>\n\n\n\n

\u201cAs we get better and better at making these therapies and shorten the time frame even more, economies of scale will kick in and I would expect the costs to come down,\u201d Musunuru said.<\/p>\n\n\n\n

Scientists also won\u2019t have to redo all the initial work every time they create a customized therapy, Bhoopalan said, so this research \u201csets the stage\u201d for treating other rare conditions.<\/p>\n\n\n\n

Carlos Moraes, a neurology professor at the University of Miami who wasn\u2019t involved with the study, said research like this opens the door to more advances.<\/p>\n\n\n\n

\u201cOnce someone comes with a breakthrough like this, it will take no time\u201d for other teams to apply the lessons and move forward, he said. \u201cThere are barriers, but I predict that they are going to be crossed in the next five to 10 years. Then the whole field will move as a block because we\u2019re pretty much ready.\u201d<\/p>\n\n\n\n

Nbcnews<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

A baby born with a rare and dangerous genetic disease is growing and thriving after getting an experimental gene editing treatment made just for him. Researchers described the case in a new study, saying he\u2019s among the first to be successfully treated with a custom therapy that seeks to fix a tiny but critical error in his genetic code […]<\/p>\n","protected":false},"author":7,"featured_media":42388,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[5784],"tags":[3309,2190,32989,7538,3977],"class_list":["post-42387","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-health","tag-babies","tag-experiments","tag-gene-editing","tag-rare-diseases","tag-treatment"],"_links":{"self":[{"href":"https:\/\/ustower.net\/index.php?rest_route=\/wp\/v2\/posts\/42387","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ustower.net\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ustower.net\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ustower.net\/index.php?rest_route=\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/ustower.net\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=42387"}],"version-history":[{"count":1,"href":"https:\/\/ustower.net\/index.php?rest_route=\/wp\/v2\/posts\/42387\/revisions"}],"predecessor-version":[{"id":42389,"href":"https:\/\/ustower.net\/index.php?rest_route=\/wp\/v2\/posts\/42387\/revisions\/42389"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ustower.net\/index.php?rest_route=\/wp\/v2\/media\/42388"}],"wp:attachment":[{"href":"https:\/\/ustower.net\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=42387"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ustower.net\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=42387"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ustower.net\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=42387"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}