Latest news with #KJMuldoon
Gulf Today
21-05-2025
- Health
- Gulf Today
US baby with rare illness treated with tailor-made gene edit
A US infant with a rare condition has become history's first patient to be treated with a personalized gene-editing technique that raises hopes for other people with obscure illnesses, doctors said Thursday. The wee pioneer is KJ Muldoon, now a 9-and-a-half-month-old boy with chubby cheeks and big blue eyes. Shortly after birth, he was diagnosed with a rare and serious condition called CPS1 deficiency. It is caused by a mutation in a gene that produces an enzyme key to liver function, and prevents people with it from eliminating certain kinds of toxic waste produced by their metabolism. "You Google 'CPS1 deficiency' and it's either fatality rate or liver transplant," the baby's mother, Nicole Muldoon, says in a video released by Children's Hospital of Philadelphia, where the baby was treated. KJ Muldoon (centre) sits with his siblings. AP With the prognosis grim, doctors suggested something that had never been done before: a personalized treatment to fix the baby's genome using what amounts to a pair of molecular scissors -- the technique called Crispr-Cas9, which earned its creators the Nobel prize for chemistry in 2020. The boy's father said he and his wife faced an impossible decision. "Our child is sick. We either have to get a liver transplant or give him this medicine that's never been given to anybody before, right?" said Kyle Muldoon. In the end, they agreed to have the child treated with an infusion created just for him to fix his genetic mutation -- incorrect DNA letters in the several billion that make up the human genome. "The drug is really designed only for KJ, so the genetic variants that he has are specific to him. It's personalized medicine," said Rebecca Ahrens-Nicklas, a member of the medical team who specializes in pediatric genetics. KJ Muldoon sits with his parents, Kyle and Nicole Muldoon, and his siblings. AP Once the tailor-made infusion reaches the liver, the molecular scissors contained in it penetrates cells and goes to work editing the boy's flawed gene. The results were promising for other people with genetic conditions, said the medical team, which published their study Thursday in the New England Journal of Medicine. KJ can now follow a diet richer in proteins -- his condition prohibited such before -- and does not need as much medicine as he used to. But he will need to follow-up long term to monitor the safety and efficacy of the treatment, the team said. Ahrens-Nicklas said she hoped this achievement will allow the boy to get by with little or no medication some day. "We hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs," the doctor said. Agence France-Presse
The Hindu
19-05-2025
- Health
- The Hindu
US baby with rare illness treated with tailor-made gene edit
A US infant with a rare condition has become history's first patient to be treated with a personalized gene-editing technique that raises hopes for other people with obscure illnesses, doctors said May 15 2025. The wee pioneer is KJ Muldoon, now a 9-and-a-half-month-old boy. Shortly after birth, he was diagnosed with a rare and serious condition called CPS1 deficiency. It is caused by a mutation in a gene that produces an enzyme key to liver function, and prevents people with it from eliminating certain kinds of toxic waste produced by their metabolism. "You Google 'CPS1 deficiency' and it's either fatality rate or liver transplant," the baby's mother, Nicole Muldoon, says in a video released by Children's Hospital of Philadelphia, where the baby was treated. With the prognosis grim, doctors suggested something that had never been done before: a personalized treatment to fix the baby's genome using what amounts to a pair of molecular scissors -- the technique called Crispr-Cas9, which earned its creators the Nobel prize for chemistry in 2020. The boy's father said he and his wife faced an impossible decision. "Our child is sick. We either have to get a liver transplant or give him this medicine that's never been given to anybody before, right?" said Kyle Muldoon. In the end, they agreed to have the child treated with an infusion created just for him to fix his genetic mutation -- incorrect DNA letters in the several billion that make up the human genome. "The drug is really designed only for KJ, so the genetic variants that he has are specific to him. It's personalised medicine," said Rebecca Ahrens-Nicklas, a member of the medical team who specialises in paediatric genetics. Once the tailor-made infusion reaches the liver, the molecular scissors contained in it penetrates cells and goes to work editing the boy's flawed gene. The results were promising for other people with genetic conditions, said the medical team, which published their study 15, May 2025 inTheNew England Journal of Medicine. KJ can now follow a diet richer in proteins -- his condition prohibited such before -- and does not need as much medicine as he used to. But he will need to follow-up long term to monitor the safety and efficacy of the treatment, the team said. Ahrens-Nicklas said she hoped this achievement will allow the boy to get by with little or no medication some day. "We hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs," the doctor said.
Japan Today
18-05-2025
- Health
- Japan Today
Gene editing helped a desperately ill baby thrive. Scientists say it could someday treat millions
This photo provided by the Children's Hospital of Philadelphia shows KJ Muldoon after a follow up dose of an experimental gene editing treatment at the hospital in April 2025. (Chloe Dawson/Children's Hospital of Philadelphia via AP) By LAURA UNGAR 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's 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. 'This 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,' 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. 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. Knowing KJ's odds, parents Kyle and Nicole Muldoon, both 34, worried they could lose him. 'We were, like, you know, weighing all the options, asking all the questions for either the liver transplant, which is invasive, or something that's never been done before,' Nicole said. 'We prayed, we talked to people, we gathered information, and we eventually decided that this was the way we were going to go,' her husband added. Within six months, the team at Children's Hospital of Philadelphia and Penn Medicine, along with their partners, created a therapy designed to correct KJ's faulty gene. They used CRISPR, the gene editing tool that won its inventors the Nobel Prize in 2020. Instead of cutting the DNA strand like the first CRISPR approaches, doctors employed a technique that flips the mutated DNA 'letter' — also known as a base — to the correct type. Known as 'base editing," it reduces the risk of unintended genetic changes. It's 'very exciting' that the team created the therapy so quickly, said gene therapy researcher Senthil Bhoopalan at St. Jude Children's Research Hospital in Memphis, who wasn't involved in the study. 'This really sets the pace and the benchmark for such approaches.' 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. While the room was abuzz with excitement that day, 'he slept through the entire thing,' recalled study author Dr. Rebecca Ahrens-Nicklas, a gene therapy expert at CHOP. 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 ½-month old also takes less medication. Considering his poor prognosis earlier, 'any time we see even the smallest milestone that he's meeting – like a little wave or rolling over – that's a big moment for us,' his mother said. Still, researchers caution that it's only been a few months. They'll need to watch him for years. 'We're still very much in the early stages of understanding what this medication may have done for KJ,' Ahrens-Nicklas said. 'But every day, he's showing us signs that he's growing and thriving.' Researchers hope what they learn from KJ will help other rare disease patients. 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, for example, treats sickle cell disease, a painful blood disorder affecting millions worldwide. Musunuru said his team's work — funded in part by the National Institutes of Health — showed that creating a custom treatment doesn't have to be prohibitively expensive. The cost was 'not far off' from the $800,000-plus for an average liver transplant and related care, he said. 'As 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,' Musunuru said. Scientists also won't have to redo all the initial work every time they create a customized therapy, Bhoopalan said, so this research 'sets the stage' for treating other rare conditions. Carlos Moraes, a neurology professor at the University of Miami who wasn't involved with the study, said research like this opens the door to more advances. 'Once someone comes with a breakthrough like this, it will take no time" for other teams to apply the lessons and move forward, he said. 'There 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're pretty much ready.' © Copyright 2025 The Associated Press. All rights reserved. This material may not be published, broadcast, rewritten or redistributed without permission.
Malay Mail
17-05-2025
- Health
- Malay Mail
In US, first baby treated with custom gene-editing, sparking hope for rare illnesses
WASHINGTON, May 18 — A US infant with a rare condition has become history's first patient to be treated with a personalised gene-editing technique that raises hopes for other people with obscure illnesses, doctors said Thursday. The wee pioneer is KJ Muldoon, now a nine-and-a-half-month-old boy with chubby cheeks and big blue eyes. Shortly after birth, he was diagnosed with a rare and serious condition called CPS1 deficiency. It is caused by a mutation in a gene that produces an enzyme key to liver function, and prevents people with it from eliminating certain kinds of toxic waste produced by their metabolism. 'You Google 'CPS1 deficiency' and it's either fatality rate or liver transplant,' the baby's mother, Nicole Muldoon, says in a video released by Children's Hospital of Philadelphia, where the baby was treated. With the prognosis grim, doctors suggested something that had never been done before: a personalised treatment to fix the baby's genome using what amounts to a pair of molecular scissors — the technique called Crispr-Cas9, which earned its creators the Nobel prize for chemistry in 2020. The boy's father said he and his wife faced an impossible decision. 'Our child is sick. We either have to get a liver transplant or give him this medicine that's never been given to anybody before, right?' said Kyle Muldoon. In the end, they agreed to have the child treated with an infusion created just for him to fix his genetic mutation — incorrect DNA letters in the several billion that make up the human genome. 'The drug is really designed only for KJ, so the genetic variants that he has are specific to him. It's personalised medicine,' said Rebecca Ahrens-Nicklas, a member of the medical team who specialises in paediatric genetics. Once the tailor-made infusion reaches the liver, the molecular scissors contained in it penetrates cells and goes to work editing the boy's flawed gene. The results were promising for other people with genetic conditions, said the medical team, which published their study Thursday in the New England Journal of Medicine. KJ can now follow a diet richer in proteins — his condition prohibited such before — and does not need as much medicine as he used to. But he will need to follow-up long term to monitor the safety and efficacy of the treatment, the team said. Ahrens-Nicklas said she hoped this achievement will allow the boy to get by with little or no medication some day. 'We hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs,' the doctor said. — AFP
SBS Australia
17-05-2025
- Health
- SBS Australia
How a custom-made gene therapy could save one baby's life
It's a medical breakthrough that could change how we treat some of the rarest and most devastating diseases on the planet. In the United States, a desperately ill baby has defied the odds, thanks to a personalised gene editing therapy crafted, just for him. Doctors say this is just the beginning, and that one day, millions could benefit from the same technology. Baby KJ Muldoon was born with CPS1 deficiency, a condition that affects around one in a million babies. It prevents his body from clearing toxic ammonia from the blood, often leading to brain damage or death within the first year of life. But now, at just over nine months old, KJ is alive and showing early signs of improvement, thanks to a custom gene therapy developed just for him. Dr Rebecca Ahrens-Nicklas is a gene therapy expert at the Children's Hospital of Philadelphia, who helped lead the development of KJ's treatment. She explains the rare condition he was born with, and how her team approached it. "KJ was born with an incredibly severe ultra-rare disease called CPS1 deficiency. And over the past nine months since he was born, we've crafted a personalised therapy designed to correct one of his specific genetic changes that make him sick." The therapy, based on Clustered Regularly Interspaced Short Palindromic Repeats also known as CRISPR [[Crisper]] technology, chemically edits one letter of DNA rather than cutting the genetic code, reducing the chance of unintended damage. KJ has now had three rounds of treatment without complications. Dr Ahrens-Nicklas shares the progress he's made. "And we were able to make the therapy and give KJ the first dose when he was between six and seven months of age. We're happy to share that he's received three doses of the therapy without any complications and he's showing some early signs of benefit." For KJ's father, Kyle Muldoon, the science was overwhelming at first. But he says Dr Ahrens-Nicklas helped them understand just how extraordinary the treatment could be. Mr Muldoon recalls that first conversation. "And when we had met with Dr. Ahrens-Nicklas, I had a very profound feeling about this gene editing, which was such a foreign concept. I mean, still, is a very foreign concept, but at the time, and to Dr. Ahrens' credit, she was so humble in the way she was telling us about this extraordinary thing that was essentially going to possibly save and enhance our child's life." And for Nicole Muldoon, KJ's mother, even the smallest milestones feel monumental. Just months ago, doctors were discussing palliative care and liver transplants. Now, she says, every sign of progress is proof the therapy may be working. "In all honesty, all milestones that he's reaching or like developmental moments that he is reaching show us that things are working ... the prognosis for him was very different before we started talking about gene editing and the infusions. We were talking more about like comfort care, liver transplant, and high, you know, very severe delays due to the ammonia build-up and the damage that that could bring. So anytime we see even the smallest milestone that he's meeting, like a little wave or rolling over, that's a big moment for us, because six, seven months ago, we were having very different conversations of what that may look like." KJ is one of an estimated 350 million people globally living with rare diseases, most of them genetic. Though personalised therapies like his are still experimental and expensive, scientists hope they can eventually scale the technology to help more patients. It's too early to say whether this is a cure, but for one family, it's a second chance, and perhaps, the beginning of something much bigger.
