Latest news with #CPS1deficiency
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
Yahoo
17-05-2025
- Health
- Yahoo
Doctors Achieve Medical Breakthrough Using Gene-Editing Therapy to Heal Baby with Rare Disorder
KJ Muldoon was diagnosed with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency after his birth in August 2024 Doctors were able to create a custom therapy to treat the rare condition within just six months as a result of research they began a year prior, according to a Children's Hospital of Philadelphia news release "We hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs,' said Dr. Rebecca Ahrens-NicklasDoctors have successfully used gene-editing therapy to treat an infant born with a rare genetic disorder in what experts are calling a historic medical breakthrough. Following his birth in August 2024, KJ Muldoon was diagnosed with a rare metabolic disease known as severe carbamoyl phosphate synthetase 1 (CPS1) deficiency, according to a Children's Hospital of Philadelphia news release. He had to spend the first several months of his life sick in the hospital. The condition affects one in 1.3 million babies and half of all babies diagnosed die within their first week of life. Those who survive have severe mental and developmental delays and typically require a liver transplant, per Science Direct. Luckily, KJ's parents, Nicole and Kyle Muldoon, connected with Dr. Rebecca Ahrens-Nicklas, director of the Gene Therapy for Inherited Metabolic Disorders Frontier Program (GTIMD) at Children's Hospital of Philadelphia, and Dr. Kiran Musunuru, the Barry J. Gertz Professor for Translational Research in Penn's Perelman School of Medicine. The doctors had started collaborating in 2023, working on ways to correct genetic mutations in young children with ultra-rare diseases. With their research, they were able to create a custom therapy for KJ in six months. 'We would do anything for our kids, so with KJ, we wanted to figure out how we were going to support him and how we were going to get him to the point where he can do all the things a normal kid should be able to do,' said mom Nicole, per the news release. She added, 'We thought it was our responsibility to help our child, so when the doctors came to us with their idea, we put our trust in them in the hopes that it could help not just KJ but other families in our position.' Her son's case is detailed in a new study, published on May 15 by The New England Journal of Medicine. In February, KJ received his first dose of the experimental therapy — an infusion containing billions of microscopic gene-editors that homed in on a mutation in his liver to correct his defect. 'Years and years of progress in gene editing and collaboration between researchers and clinicians made this moment possible, and while KJ is just one patient, we hope he is the first of many to benefit from a methodology that can be scaled to fit an individual patient's needs,' said Ahrens-Nicklas in the release. is now available in the Apple App Store! Download it now for the most binge-worthy celeb content, exclusive video clips, astrology updates and more! As of April 2025, KJ has received three doses with no serious side effects. Doctors said they will need to monitor him carefully for the rest of his life to see if he's cured, but his condition has improved and he's developing well. They noted that their results so far are 'quite promising.' 'We want each and every patient to have the potential to experience the same results we saw in this first patient, and we hope that other academic investigators will replicate this method for many rare diseases and give many patients a fair shot at living a healthy life,' said Musunuru, per the news release. 'The promise of gene therapy that we've heard about for decades is coming to fruition, and it's going to utterly transform the way we approach medicine.' Never miss a story — sign up for to stay up-to-date on the best of what PEOPLE has to offer, from celebrity news to compelling human interest stories. With their success, KJ's parents are now thrilled to have their son home from the hospital with his three siblings. 'We've been in the thick of this since KJ was born, and our whole world's been revolving around this little guy and his stay in the hospital,' said Kyle, per the news release. 'We're so excited to be able to finally be together at home so that KJ can be with his siblings, and we can finally take a deep breath.' Read the original article on People
Yahoo
17-05-2025
- Health
- Yahoo
Breakthrough gene-editing treatment saves baby
When you buy through links on our articles, Future and its syndication partners may earn a commission. A team of doctors and scientists has used a tailor-made gene-editing therapy to treat an infant with a rare genetic condition, a medical first that opens the door to a new era of individualized medicine, especially for people with uncommon diseases, the researchers reported Thursday in The New England Journal of Medicine. "This is the future of medicine," said study coauthor Dr. Kiran Musunuru, a gene-editing expert at the University of Pennsylvania. KJ Muldoon was diagnosed with CPS1 deficiency, which causes toxic levels of ammonia in the blood, soon after his premature birth in Philadelphia last August. He had "perhaps as few as six months before a mounting risk of severe brain damage or death," The New York Times said. Instead, he "made medical history." KJ's diagnosis launched an "all-out six-month sprint" by a network of researchers and companies to develop a therapy, "vet its safety and use it to fix an errant gene" in his liver, The Washington Post said. They used the gene-editing tool CRISPR to create an enzyme that "flips the mutated DNA 'letter'" to the "correct type" to process ammonia, The Associated Press said. KJ got his first injection in February, then lower doses in March and April. "We're still very much in the early stages of understanding what this medication may have done for KJ," said Dr. Rebecca Ahrens-Nicklas, his doctor at Children's Hospital of Philadelphia and a study coauthor. "But every day, he's showing us signs that he's growing and thriving." He is expected to go home in a few weeks.
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.
The Independent
16-05-2025
- Health
- The Independent
Baby born with rare life-threatening disorder makes medical history
A baby born with a rare, life-threatening genetic disorder is thriving after receiving a groundbreaking, personalized gene-editing treatment. The experimental therapy, crafted specifically for his condition, corrected a minute yet crucial error in his genetic code, offering hope for others with similarly rare diseases. The infant, KJ Muldoon of Clifton Heights, Pennsylvania, was diagnosed shortly after birth with severe CPS1 deficiency. This condition, estimated to affect roughly one in a million babies, prevents the body from effectively removing ammonia, leading to potentially toxic buildup in the bloodstream. While liver transplants can be a solution for some, this innovative gene-editing treatment offers a new avenue of hope. The study, published in the New England Journal of Medicine, details KJ's case and highlights the potential of this technology. Dr. Kiran Musunuru, a University of Pennsylvania gene editing expert and study co-author, hailed the treatment as "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." KJ's case represents a significant advancement in personalized medicine, demonstrating the potential to tailor treatments to individual genetic profiles. While widespread availability of such personalized therapies remains on the horizon, this success story offers a beacon of hope for the millions affected by rare genetic conditions often overlooked by mainstream medical advancements. KJ is among the first to benefit from this cutting-edge approach, paving the way for future applications of gene editing in treating a broader spectrum of rare diseases. 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.'
