Latest news with #DrRebeccaAhrensNicklas
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.
Telegraph
15-05-2025
- Health
- Telegraph
Gene editing cures child of rare disease in world first
A child with an extremely rare genetic disorder has become the first to be genetically edited for his disease in a breakthrough for people suffering from uncommon conditions. KJ Muldoon was born with a rare metabolic disease known as severe carbamoyl phosphate synthetase 1 (CPS1) deficiency, which causes a build-up of ammonia and can result in brain damage and organ failure. It affects fewer than one in a million people, so there is little incentive for pharmaceutical companies to find a treatment. But in a medical first, doctors at the Children's Hospital of Philadelphia (CHOP) and Penn Medicine, used the genetic editing tool Crispr to correct the defect in his DNA which causes the condition. Crispr, which acts like genetic scissors to alter genetic code, is already being used for diseases such as sickle cell disease and beta thalassemia which affect hundreds of thousands of people. It is hoped the technique could be adapted to treat individuals with rare diseases for whom no medical treatments are available. '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 Dr Rebecca Ahrens-Nicklas, director of the Gene Therapy for Inherited Metabolic Disorders Frontier Programme (GTIMD) at the Children's Hospital of Philadelphia. 'While KJ will need to be monitored carefully for the rest of his life, our initial findings are quite promising.' The personal treatment was developed in just six months and delivered via fatty nanoparticles injected into the liver to correct a faulty enzyme which causes the overproduction of ammonia. KJ spent the first months of his life in hospital, living a very restricted diet before receiving the first round of his bespoke therapy in February, when he was around seven months old. He has since had two more injections and doctors say he is now growing well and thriving and has been able to go home. Kyle Muldoon, KJ's father, said: '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. '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.' Typically, patients with CPS1 deficiency are treated with a liver transplant, but they need to be old enough to handle such a major procedure. Dr Kiran Musunuru, professor for translational research in Penn's Perelman School of Medicine, said: '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. '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.' Commenting on the research, Dr Alena Pance, senior lecturer in genetics at the University of Hertfordshire, said: 'Crispr-based therapy has been used to correct genetic diseases before. The approach in the paper is applicable to this specific form of the disease. 'The approach is applicable to any disease caused by a single nucleotide change, however more often than not, diseases are caused by a variety of variants so perhaps more general strategies could be more effective than very precise ones.' The research was published in the New England Journal of Medicine.
The Guardian
15-05-2025
- Health
- The Guardian
US doctors rewrite DNA of infant with severe genetic disorder in medical first
Doctors in the US have become the first to treat a baby with a customised gene-editing therapy after diagnosing the child with a severe genetic disorder that kills about half of those affected in early infancy. International researchers have hailed the feat as a medical milestone, saying it demonstrated the potential for treating an array of devastating genetic diseases by rewriting faulty DNA soon after affected children are born. Specialists at the Children's Hospital of Philadelphia and the University of Pennsylvania started work as soon as the boy was diagnosed and completed the complex design, manufacture and safety testing of the personalised therapy within six months. The baby, known as KJ, had the first dose of the bespoke treatment via an infusion in February and two more doses in March and April. Doctors said he was thriving, but would need careful monitoring for life. Dr Rebecca Ahrens-Nicklas, a senior physician on the team, said the breakthroug was made possible by 'years and years of progress' in gene editing. 'While KJ is just one patient, we hope he is the first of many to benefit,' she said. KJ was born with severe CPS1 deficiency, a condition that affects only one in 1.3 million people. Those affected lack a liver enzyme that converts ammonia, from the natural breakdown of proteins in the body, into urea so it can be excreted in urine. This causes a build-up of ammonia that can damage the liver and other organs, such as the brain. While some patients receive liver transplants for CPS1 deficiency, babies with severe disease can have suffered damage by the time they are big enough to operate on. Writing in the New England Journal of Medicine, the doctors described the painstaking process of identifying the specific mutations behind KJ's disorder, designing a gene-editing therapy to correct them, and testing the treatment and fatty nanoparticles needed to carry it into the liver. The therapy uses a powerful procedure called base editing which can rewrite the DNA code one letter at a time. KJ spent his first few months of life in hospital on a restrictive diet, but since his treatment doctors have been able to increase the amount of protein in his food and use less medication to remove nitrogen from his body. Details were presented at the American Society of Gene and Cell Therapy annual meeting in New Orleans. The medical team said longer follow-up was needed to see how well the therapy worked, but early signs were encouraging. '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,' said Prof Kiran Musunuru at the University of Pennsylvania. Dr Miguel Ángel Moreno-Mateos, a geneticist at Pablo de Olavide University, in Seville, said: 'Although this has been a very specific approach, partly motivated by the devastating nature of the disease, it represents a milestone that demonstrates these therapies are now a reality. As the article reports, the patient will be monitored for a long time to ensure his wellbeing and determine whether additional doses are needed to further improve the symptoms of the disease.'
