US baby with rare illness treated with tailor-made gene edit
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.
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.
Once the tailor-made infusion reaches the liver, the molecular scissors contained in it penetrate cells and go 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 long-term follow-up 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 someday.
'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.
Hashtags
Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles
Al Arabiya
11 hours ago
- Al Arabiya
UnitedHealth falls short of second quarter expectations and offers weak outlook for 2025
UnitedHealth missed Wall Street's second-quarter earnings expectations and offered a new and conservative take on the rest of 2025. The health care giant said Tuesday that it expects rising medical costs—which have hurt the company and several rivals this year—to continue to pressure its performance. The insurer says it now expects adjusted earnings of at least $16 per share in 2025 after withdrawing its previous forecast for the year in May. For the full year, analysts forecast earnings of $20.64 per share according to the data firm FactSet. UnitedHealth Group Inc. runs one of the nation's largest health insurance and pharmacy benefits management businesses. The Eden Prairie, Minnesota company also operates a growing Optum business that provides care and technology support. In May, the company withdrew its 2025 forecast due to higher-than-expected medical costs and CEO Andrew Witty departed the company abruptly. He was replaced by Chairman Stephen Hemsley, who was the UnitedHealth CEO for more than a decade until 2017. Hemsley promised had said in June that UnitedHealth would establish a prudent 2025 earnings outlook when it detailed second-quarter results. Hemsley also said then that the company had underestimated care activity and cost trends but improvements were being made. In the second quarter, UnitedHealth reported adjusted earnings of $4.08 per share on $111.6 billion in revenue. Analysts expected earnings of $4.48 per share on $111.5 billion in revenue according to FactSet. UnitedHealth is normally the first health insurer to report earnings every quarter, but this summer it followed competitors like Elevance Health Inc. and Centene Corp. that have lowered their annual forecasts and delivered disappointing results. Several insurers say they have been hit by medical costs that are rising faster than expected. Companies have seen a rise in expensive emergency rooms visits and growing prescription drug costs, especially from expensive cancer treatments and gene therapy. They've also seen a rise in behavioral health care, which includes the treatment of mental health conditions and substance use disorders. Shares slid about 4 percent before the opening bell Tuesday.
Al Arabiya
a day ago
- Al Arabiya
Sarepta will resume gene therapy shipments after fda review of recent patient death
Shares of beleaguered drugmaker Sarepta Therapeutics jumped in afterhours trading Monday after the company said it would resume shipping its gene therapy for some patients following a brief pause requested by regulators. The Food and Drug Administration said it recommended lifting the hold for young patients with Duchennes muscular dystrophy who are still able to walk. Regulators had requested the pause after the deaths of two older teenagers who were taking the therapy. The FDA also said in a statement it determined that a recently reported death of an 8-year-old boy was unrelated to the therapy. Company shares surged more than 16 percent after the announcement to 13.86 in afterhours trading. The jump is the latest in a series of drastic stock movements triggered by changing fortunes for the company's best-selling product. Elevidys is the first gene therapy approved in the US for Duchennes muscular dystrophy–the fatal muscle-wasting disease that affects boys and young men resulting in early death. It received accelerated approval in 2023 for a narrow range of young patients and was expanded last year for use in older patients including those who can no longer walk. The FDA decision Monday significantly improves Elevidys' sales outlook in the near-term, Jefferies analyst Andrew Tsai told investors in a note after the announcement. 'The street will feel relieved about the situation suggesting meaningful stock upside potential.' Sarepta's therapy has been under scrutiny from regulators after two teenage boys died earlier this year from acute liver injury–a known side effect of the treatment. The FDA then requested a pause in shipments of the drug after the death of a third patient taking a different Sarepta therapy. FDA officials have suggested the company will need to provide new study data on safety to resume Elevidys' use in older patients. 'The FDA will continue to work with the sponsor regarding non-ambulatory patients which remains subject to a voluntary hold following two deaths,' FDA said in its statement.
Al Arabiya
a day ago
- Al Arabiya
Deion sanders had bladder cancer. here's what to know about a disease that's more common in men
Colorado football coach Deion Sanders was diagnosed with an aggressive form of bladder cancer earlier this year, had surgery to remove the organ, and is now considered cured by his doctors, the Pro Football Hall of Famer said Monday. Sanders said he is upbeat and plans to coach the Buffaloes this fall. Bladder cancer is the 10th leading cause of cancer death in the United States, but recent advancements in its treatment have improved outcomes for people who are diagnosed, according to the American Cancer Society. The 57-year-old Sanders shared the details of his diagnosis and treatment, which involved surgeons reconstructing a section of his intestine to function as a bladder, and said it 'was a fight, but we made it.' Here's what you should know about bladder cancer. What is bladder cancer? This cancer starts when the cells in the bladder, which stores urine, grow out of control and form tumors. In some cases, the cancer spreads to other parts of the body. The most common symptom for bladder cancer is blood in the urine, which can cause urine to look orange, pink, or rarely dark red. The color change can come and go, the American Cancer Society says, and early tumors may not cause pain. Pain or burning while urinating, weak stream, frequent urination, or urge to go when the bladder isn't full can also be signs of bladder cancer. Symptoms of advanced bladder cancer can include an inability to urinate, bone pain, loss of appetite, weakness, swollen feet, and lower back pain on one side. If you have symptoms, it is worth getting checked out because all of those symptoms might be from other health issues. Blood in the urine is most often from an infection, a benign tumor, a kidney stone or bladder stone, or other benign kidney disease, the American Cancer Society said. Sanders said during a news conference on Monday that the cancer was found when he went for a precautionary annual CT scan; he has a history of blood clots in his legs. How common is bladder cancer? Bladder cancer is more common in men than women. The American Cancer Society estimates there will be nearly 85000 new cases in 2025, with more than 65000 in men. The incidence rate for bladder cancer has decreased by 1 percent per year in recent years. Death rates have stayed relatively stable, declining by 1 percent per year since 2013. What can cause bladder cancer? Smoking is the biggest risk factor, the American Cancer Society said. The recent decline in incidence rates are likely due to fewer people smoking. Other risk factors include working in jobs that expose you to chemicals – like painters, metal and leather workers, miners, and firefighters. People who use a urinary catheter for a long time are also at higher risk. What is the outlook for bladder cancer patients? Outcomes for bladder cancer patients improve based on if and how much the cancer has spread. The five-year relative survival rate is 72 percent to 97 percent if the cancer has not spread outside the bladder but drops to 40 percent if the cancer has spread to lymph nodes or other nearby parts of the body, and 9 percent if it has spread further. Treatment can include surgery to remove the tumor, parts of the bladder, or the whole bladder, radiation, chemotherapy, targeted drug therapy, and immunotherapy.
