Latest news with #CPS1deficiency
Yahoo
4 days ago
- Health
- Yahoo
AAP's New Genetic Testing Guidance Could Mean Faster Diagnoses For Children
If you're noticing delays in your child's speech or motor skills, you're in good company. The CDC reports that approximately 1 in 12 children will exhibit such signs between the ages of 3 and 17. Then begins a very long process. First, you share your concerns with your pediatrician, and then you may spend years focused on symptoms without knowing the root cause. While speech therapy, play therapy, and physical therapy are wonderful and valuable tools, you also want to know exactly what's going on, and the newest guidelines may get you there faster. The American Academy of Pediatrics is now recommending genetic testing when signs indicate a genetic disorder, which can lead to better treatment and greater clarity for the family's future. The most basic and direct reason that genetic testing matters is for treatment. While many genetic disorders may have initial symptoms (like developmental delays) that look similar to one another, the treatment can vary. Medical science is currently working on gene therapies (such as the one that is currently showing early success in treating a child with CPS1 deficiency in a recent breakthrough) that may eventually be a cure for some disorders. For others, the treatment that is effective in reducing symptoms can depend on the cause, and genetic screening allows a doctor to target your child's symptoms with the most effective care. Further, genetic testing can help predict the trajectory of your child's health and guide you in family planning decisions by helping determine the likelihood of similar conditions in your child's potential siblings. The new report from the AAP, which will be published in the July issue of Pediatrics, encourages doctors to initiate genetic testing promptly if symptoms warrant it, rather than delaying and monitoring symptoms for changes or starting with narrower tests that may only screen for one genetic cause at a time. This starts with a 'phenotype-driven approach,' which is what you're used to in a doctor's office. A phenotype is essentially a trait that you can see, presumed to be caused by genetics; a genotype is the actual genetic information that causes that trait. First, your doctor would take a family history and carry out relevant tests, such as MRIs, vision and hearing tests, as well as other outward observations of growth and development. Then, as soon as the testing indicated, they would move on to a genetic screening, which could affirm or rule out conditions like Fragile X Syndrome, Rett Syndrome, and Angelman Syndrome. The significant difference lies in the push to move quickly to broad genetic screening. Katherine Stueland, President and CEO of GeneDx, notes that this could 'slash the average five-year diagnostic odyssey to a fraction of that time, drive down healthcare costs, and, most importantly, change children's lives sooner.' This shift represents an overall acknowledgment in the medical field that early genetic testing is the future and will bring about faster diagnoses and more accurate treatment. Britt Johnson, PhD, FACMG, and SVP of Medical Affairs at GeneDx, told Parenting Patch: 'The American Academy of Pediatrics (AAP) now recommending exome and genome sequencing as first-line tests for children with global developmental delay (GDD) or intellectual disability (ID) is a significant advancement for both pediatrics and precision medicine. This update reflects the growing evidence that these tests offer higher diagnostic yield and are more cost-effective when used early in the diagnostic process, a major win for both families and healthcare providers. For parents, this marks a powerful shift: pediatricians can now initiate advanced genetic testing sooner, helping to end long periods of uncertainty and misdiagnosis. Earlier access to comprehensive genomic testing means faster answers, more informed care, and potentially earlier interventions and treatments. With these updates, we can now give every child a better chance at a healthy future. The AAP's update will have a lasting impact on pediatric care and outcomes. GeneDx is committed to supporting this shift by helping educate pediatricians and equipping them with the tools and technology to provide timely, accurate diagnoses. Exome and genome sequencing are no longer tests of last resort—they are the new standard of care – and we're proud to help lead this next chapter in improving children's health.' With these new standards being published in July, parents can expect to begin seeing the effects in their pediatricians' offices in coming months and years. Health insurance companies are beginning to broaden their coverage for genetic screenings. While they may have previously covered one or two narrow genetic tests at a time, many companies are now moving to cover broader genome sequencing that can provide more thorough answers more quickly. Adding the latest AAP guidance may mean that, in the near future, families are less likely to receive surprise bills or face pushback from their health insurance companies regarding whether genetic screening is covered. As genetic testing increasingly becomes the standard for diagnostics, insurance companies may require fewer extra steps, referrals, and authorizations before approving it, and pricing typically becomes more accessible, including for families reliant on programs like Medicaid.
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.
