Latest news with #CliftonHeights
Sky News
16-05-2025
- Health
- Sky News
Baby gets world's first personalised gene therapy treatment
A baby born with a rare genetic disease is "growing and thriving" after getting bespoke gene therapy. It's the first time anyone in the world has been given an experimental gene-editing treatment designed specifically for their disease and took scientists just seven months to develop. Nine-and-a-half-month-old KJ Muldoon, from Clifton Heights, Pennsylvania, has a rare metabolic condition - known as severe carbamoyl phosphate synthetase 1 (CPS1) deficiency - that meant he has spent the first months of his life in a US hospital on a very restrictive diet. In February, however, the boy received the first dose of his bespoke treatment and then follow-up doses in March and April. "We prayed, we talked to people, we gathered information, and we eventually decided that this was the way we were going to go," said KJ's father Kyle Muldoon. KJ has been able to eat more normally and has recovered well from illnesses like colds, which can strain the body and exacerbate his symptoms. He also now takes fewer medications. Some experts estimate severe CPS1 deficiency affects 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. "We're still very much in the early stages of understanding what this medication may have done for KJ," said study author Dr Rebecca Ahrens-Nicklas, a gene therapy expert at the Children's Hospital of Philadelphia (CHOP). "But every day, he's showing us signs that he's growing and thriving." Considering how poorly KJ had been, "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", said his mother Nicole Muldoon. The team behind KJ's treatment, made up of experts from CHOP and the University of Pennsylvania, published the results of their work in the New England Journal of Medicine. Gene therapy Gene therapy is an innovative treatment that aims to cure disease at the source, by editing the DNA causing the problem. The scientists working on KJ's case used CRISPR, the gene editing tool that won its inventors the Nobel Prize in 2020. In KJ's case, the team found the disease-causing mutation in his genes and created the treatment to flip a "letter" in his genetic code to the correct type. "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. The scientists hope that by publishing the results of their treatment quickly, it'll help others to test out similar bespoke treatments. "Once someone comes with a breakthrough like this, it will take no time" for other teams to apply the lessons and move forward, said Carlos Moraes, a neurology professor at the University of Miami who wasn't involved in the study. "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."
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.'
Yahoo
16-05-2025
- Health
- Yahoo
Baby born with rare disorder thrives after getting personalized gene editing treatment
The Brief KJ Muldoon was diagnosed with a rare genetic disorder when he was born called severe CPS1 deficiency. KJ is one in a million babies that are diagnosed with this illness. Researchers and doctors used CRISPR gene editing to create a customized treatment for KJ. A baby born with a rare and dangerous genetic disease is thriving after receiving an experimental gene editing treatment that was made just for him. In a study published in the New England Journal of Medicine on Thursday, researchers said the baby's case is among the first to be successfully treated with a custom therapy that seeks to fix a tiny but critical error in his genetic code. KJ Muldoon of Clifton Heights, Pennsylvania, was diagnosed with severe CPS1 deficiency shortly after being born. Within six months, a team at Children's Hospital of Philadelphia (CHOP) and Penn Medicine, as well as their partners, created a therapy specifically designed to correct KJ's faulty gene through CRISPR. Dig deeper People diagnosed with severe CPS1 deficiency lack an enzyme that is needed to help remove ammonia from their bodies. This deficiency then leads to a build up of ammonia in their blood and becomes toxic. A liver transplant is another option to treat this illness. By the numbers About one in a million babies are diagnosed with this rare disease. CRISPR is a 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. The backstory 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. Dr. Kiran Musunuru, a University of Pennsylvania gene editing expert who co-authored the study about KJ's treatment, 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. Timeline 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. 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. What's next Despite the positive results, researchers caution that it's only been a few months since KJ began receiving this new treatment. He'll need to be under observation for years. What they're saying "We're still very much in the early stages of understanding what this medication may have done for KJ," Dr. Rebecca Ahrens-Nicklas, a gene therapy expert at CHOP, said. "But every day, he's showing us signs that he's growing and thriving." The Source Information for this article was taken from a Children's Hospital of Philadelphia news release and The Associated Press. This story was reported from Los Angeles.
CBC
15-05-2025
- Health
- CBC
Desperately ill baby healed with personalized gene therapy, doctors say
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, according to the doctors who treated 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 the infants with the rare disease. 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, Penn., 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. WATCH | Gene therapy for sickle cell: U.K. approves world's first gene therapy treatment for sickle cell 1 year ago Duration 2:03 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 nine-and-a-half-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." Opens door to advances in other rare diseases 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 U.S. 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 US-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."
CNN
15-05-2025
- Health
- CNN
Gene editing helped a desperately ill baby thrive. Scientists say it could someday treat millions
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.'
