Latest news with #medicalbreakthrough
Daily Mail
19-05-2025
- Health
- Daily Mail
World's first bladder transplant hailed as 'groundbreaking moment in medical history' - op gives hope to cancer patients
Surgeons in the US have performed a 'miracle' bladder transplant for the first time — giving hope to thousands of patients living with deadly organ failure. The first ever patient to undergo the groundbreaking operation is Oscar Larrainzar, a 41 year-old from Los Angeles with a rare form of cancer who lost nearly all function of his bladder. Now, following the successful procedure, he is not only able to use the toilet independently again, but doctors said the surgery also saved his life. Doctors have hailed the procedure a 'groundbreaking moment in medical history' and 'the realisation of a dream'. Dr Inderbir Gill, the urologist who performed the transplant, said: 'There is no question: A potential door has been opened for these people that did not exist earlier. 'Transplantation is a lifesaving and life-enhancing treatment option for many conditions affecting major organs, and now the bladder can be added to the list,' he told the New York Times. Following treatment for tracheal adenocarcinoma, a rare type of bladder cancer, and a surgery to remove the tumour four years ago, Mr Larrainzar had 'been left without much of a bladder at all.' A normal bladder can hold more than 300 cubic centimeters of fluid. But Mr Larrainzar's could hold 30, according to his medical team. The patient had also been dialysis-dependent for seven years after both of his kidneys were subsequently removed as part of his cancer treatment. To address these deficits doctors performed a combined kidney and bladder transplant, allowing the patient to immediately stop dialysis and produce urine for the first time in seven years. First the kidney, then the bladder, were transplanted. The new kidney was then connected to the new bladder. The entire procedure took approximately eight hours. 'The kidney immediately made a large volume of urine, and the patient's kidney function improved immediately,' Dr Nassiri, who was part of the team of surgeons who performed the procedure, added. 'There was no need for any dialysis after surgery, and the urine drained properly into the new bladder.' 'Despite the complexity of the case, everything went according to plan and the surgery was successful,' said Dr Gill, who is chairman of the urology department at University of Southern California. 'The patient is doing well, and we are satisfied with his clinical progress to date.' 'Of course, this is very, very early. Let's see how everything goes,' Dr Gill cautioned. 'But it's the first time he has been able to pee in seven years. For all of us, this is huge.' Typically, rather than a transplant, patients with a failing bladder are fitted with what's known as a neobladder—a bag that collects the urine outside the body. Some patients will have their intestine repurposed by surgeons to enable the organ to pass urine. Experts say that patients suffer complications up to 80 per cent of the time when the intestine is used to replace the bladder, which Mr Larrainzar had been living with for four years. They say it can lead to digestive issues, kidney failure and cause deadly bacteria to spread in the body. 'While these surgeries can be effective, they come with many short-and long-term risks that compromise a patient's health such as recurrent infections, compromised kidney function and digestive issues,' said Dr Gill. 'A bladder transplant, on the other hand, delivers a more 'normal' urinary reservoir and may circumvent some of the challenges associated with using the intestine,' said Dr Nassiri. The doctors plan to perform bladder transplants in four more patients as part of a clinical trial to get a sense of outcomes like bladder capacity before pursuing a larger trial to expand its use. The biggest risks of organ transplant are the body's potential rejection of the organ and side-effects caused by the immunosuppressive drugs given to prevent organ rejection. Dr Gill added that the best current candidates are those who've coped with an organ transplant previously, or those who need a combined kidney and bladder transplant.
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
Irish Times
16-05-2025
- Health
- Irish Times
How KJ made medical history: baby healed with world's first personalised gene-editing treatment
Something was very wrong with Kyle and Nicole Muldoon's baby. The doctors speculated. Maybe it was meningitis? Maybe sepsis? They got an answer when KJ was only a week old. He had a rare genetic disorder, CPS1 deficiency, that affects just one in 1.3 million babies. If he survived, he would have severe mental and developmental delays and would eventually need a liver transplant. But half of all babies with the disorder die in the first week of life. Doctors at Children's Hospital of Philadelphia offered the Muldoons comfort care for their baby, a chance to forgo aggressive treatments in the face of a grim prognosis. 'We loved him, and we didn't want him to be suffering,' Nicole said. But she and her husband decided to give KJ a chance. Instead, KJ has made medical history. READ MORE The baby, now nine and a half months old, became the first patient of any age to have a custom gene-editing treatment, according to his doctors. He received an infusion made just for him and designed to fix his precise mutation. The investigators who led the effort to save KJ presented their work this week at the annual meeting of the American Society of Gene & Cell Therapy and were also publishing it in the New England Journal of Medicine . The implications of the treatment go far beyond treating KJ, said Dr Peter Marks, who was the Food and Drug Administration official overseeing gene-therapy regulation until he recently resigned over disagreements with Robert F Kennedy Jr, the US secretary of health and human services. KJ's treatment offers a new path for companies to develop personalised treatments without going through years of expensive development and testing. Illnesses such as KJ's are the result of a single mutation – an incorrect DNA letter among the 3 billion in the human genome. Correcting it requires pinpoint targeting in an approach called base editing. To accomplish that feat, the treatment is wrapped in fatty lipid molecules to protect it from degradation in the blood on its way to the liver, where the edit will be made. Inside the lipids are instructions that command the cells to produce an enzyme that edits the gene. They also carry a molecular GPS – CRISPR – which was altered to crawl along a person's DNA until it finds the exact DNA letter that needs to be changed. While KJ's treatment was customised so CRISPR found just his mutation, the same sort of method could be adapted and used over and over again to fix mutations in other places on a person's DNA. Only the CRISPR instructions leading the editor to the spot on the DNA with the mutation would need to be changed. Treatments would be cheaper, 'by an order of magnitude at least,' Dr Marks said. The method, said Dr Marks, who wrote an editorial accompanying the research paper, 'is, to me, one of the most potentially transformational technologies out there.' It eventually could also be used for more common genetic disorders such as sickle cell disease, cystic fibrosis, Huntington's disease and muscular dystrophy. And, he said, it 'could really transform health care.' Saving the baby The story of KJ's bespoke gene-editing treatment began on the evening of August 8th, when Dr Kiran Musunuru, a gene-editing researcher at the University of Pennsylvania got an email from Dr Rebecca Ahrens-Nicklas at the Children's Hospital of Philadelphia. A baby had been born, and genetic testing showed he had CPS1 deficiency. Could he save the baby? Dr Musunuru had begun investigating the use of gene editing for fairly common gene mutations. Developing a gene editor to treat patients is a deliberate process that can take years. But KJ did not have years to wait – perhaps as few as six months before a mounting risk of severe brain damage or death. 'At this point, the clock starts in my mind,' Dr Musunuru said. 'This is real life. This is not hypothetical.' Dr Kiran Musunuru, a gene-editing researcher at the University of Pennsylvania, and Dr Rebecca Ahrens-Nicklas at the Children's Hospital of Philadelphia. Photograph: Children's Hospital of Philadelphia via The New York Times KJ's disease is caused by an inability to rid the body of ammonia, a byproduct of protein metabolism. Ammonia builds up in the blood and crosses into the brain. His doctors put him on a diet that severely restricted protein – just enough for him to grow. He also had a medicine, glycerol phenylbutyrate, that helped remove the ammonia in his blood. But he still was at high risk for brain injury or death. Any illness or infection could make his ammonia levels soar and cause irreversible damage to his brain. KJ lived at the hospital under 24-hour care. Building a gene-editing system for the Muldoons' baby and testing it was not easy. 'There was a lot of shooting from the hip,' Dr Musunuru said. He began working with Fyodor Urnov at the University of California, Berkeley, who made sure there were no unexpected and deleterious gene edits elsewhere in the DNA. Dr Urnov is a part of an academic collaboration with Danaher Corporation, a company capable of producing the gene editor for KJ at a standard that would allow it to be used in a patient. An image from Muldoon Family shows a close up of KJ Muldoon who was born with a rare genetic disorder, CPS1 deficiency. Danaher in turn collaborated with two other companies it owned, two additional biotechnology firms and another research institute, said Sadik Kassim, its chief technology officer for genomic medicines. 'At every step of the process, we were always expecting someone to say, 'no, sorry',' Kassim said. 'And that would be the end of the story.' But his fears were unfounded. Danaher and the other companies charged only for the raw materials to make the drug, he added. Dozens of researchers put all else aside for months. In Berkeley, Dr Urnov said, 'scientists burned a vat of midnight oil on this the size of San Francisco Bay.' He added that 'such speed to producing a clinic-grade CRISPR for a genetic disease has no precedent in our field. Not even close.' David Liu of Harvard, whose lab invented the gene-editing method used to fix KJ's mutation, said the speed was 'astounding'. 'These steps traditionally take the better part of a decade, if not longer,' he said. Only when the gene-editing solution was in hand, and the FDA approved the researchers' work, did Dr Ahrens-Nicklas approach KJ's parents. 'One of the most terrifying moments was when I walked into the room and said, 'I don't know if it will work, but I promise I will do everything I can to make sure it is safe',' she said. On the morning of February 25th, KJ received the first infusion, a very low dose because no one knew how the baby would respond. He was in his room, in the crib where he had lived his entire life. He was six months old and in the seventh percentile for his weight. An image from Kiran Musunuru shows one of the syringes of KJ's treatment. Dr Musunuru monitored the two-hour infusion, feeling, he said, 'both excited and terrified.' KJ slept through it. Within two weeks, KJ was able to eat as much protein as a healthy baby. But he still needed the medication to remove the ammonia from his blood – a sign that the gene editor had not yet corrected the DNA in every affected cell. The doctors gave him a second dose 22 days later. They were able to halve the medication dose. He got a few viral illnesses in that time, which normally would have triggered terrifying surges in his ammonia levels. But, Dr Ahrens-Nicklas said, 'he sailed through them'. A week and a half ago, the team gave KJ a third dose. An image from Children's Hospital of Philadelphia shows KJ is now well enough for the team to start planning to discharge him from the hospital and live at home, and he is meeting developmental milestones. It is too soon to know if he can stop taking the medication completely, but the dosage is greatly reduced. And he is well enough for the team to start planning to discharge him home from the hospital. He is meeting developmental milestones, and his weight is now in the 40th percentile for his age, but it is not yet known if he'll be spared a liver transplant. Those who worked on saving KJ were proud, Dr Urnov said. 'We all said to each other, 'This is the most significant thing we have ever done.'' – This article originally appeared in the New York Times
Times
15-05-2025
- Health
- Times
Doctors rewrite baby's DNA to cure genetic disorder in world first
A baby with an extremely rare and life-threatening genetic disorder has had its DNA rewritten by doctors in a world first that could pave the way for more personalised gene-editing therapies. Independent experts have hailed the breakthrough as 'totally extraordinary' after doctors were able to treat a severe disorder that is suffered by only one in 1.3 million people and kills half of those affected in infancy. The baby, known as KJ, was born with a condition known as carbamoyl phosphate synthetase 1, or CPS1, deficiency. • Hopes rise of a cheap cure for rare genetic diseases Ammonia is created in the body when proteins are processed in the liver. An enzyme in the liver is meant to break this ammonia down into urea, which
Telegraph
10-05-2025
- Health
- Telegraph
British scientists invent new treatment for disease suffered by Pope Francis
British scientists have developed a world-first treatment for an incurable condition that contributed to the Pope's death. Pope Francis was suffering from a chronic lung condition, called multiple bronchiectasis, which along with pneumonia left him hospital-bound for more than a month prior to his death. The 88-year-old officially died of a stroke, coma, and irreversible cardiovascular collapse, but the Vatican's death certificate noted his chronic lung issues, high blood pressure and type II diabetes, as conditions contributing to his ill-health and passing. However, a drug called brensocatib, manufactured by US firm Insmed, is set to become the first-ever treatment for bronchiectasis, just weeks after the pope was hospitalised with it as his health began to significantly deteriorate. The inflammatory condition is caused by white blood cells that are meant to fight infection, instead attacking the lung and 'eating away' at it. People with the condition often suffer from 'flare-ups' that cause coughing fits, pain and chest infection or pneumonia-like symptoms, that can become fatal. The new drug, which is the culmination of 15 years of work by experts at the University of Dundee, works by switching off the enzymes that are damaging the lungs. The research published in the New England Journal of Medicine has revealed patients taking the therapy experienced fewer symptoms, such as phlegm and coughing, as well as flare-ups. The largest trial into the disease ever conducted found those receiving the drug had 20 per cent fewer flare-ups on average, while it also slowed down the progression of the disease by 50 per cent, and reduced symptoms. When it was revealed that Pope Francis had been hospitalised with a 'complex lung infection', the complication was his pre-existing condition of bronchiectasis. It is thought he developed the condition after having part of his lungs removed as a young man because of a severe infection such as pneumonia. Prof James Chalmers, the lead researcher and a professor in respiratory medicine at the University of Dundee, said it was 'quite common for people who have bronchiectasis'. 'It often starts in childhood. You get a bad chest infection in childhood, or something severe, like whooping cough, it damages an area of the lung, and now you have bronchiectasis for the rest of your life,' he said. 'And so the pope, according to what was announced by the Gemelli Hospital was that pneumonia was associated with bronchiectasis, and that's what happens with people when they get bronchiectasis, they get these flare-ups, which are like pneumonia, they get infections with bugs,' he said. 'So what happened to the pope is, unfortunately, quite typical of the sort of natural history of this disease.' 'A major breakthrough' Prof Chalmers said the results were a 'major breakthrough for this disease because at the moment there's no approved treatment', with patients typically given antibiotics to treat infections that they can become resistant to over time. He said the condition goes undiagnosed in a lot of people, or misdiagnosed in others, with doctors often confusing it with asthma or other lung conditions. The number of cases has soared by 40 per cent in recent years as diagnostic technology improves and around a third of people receiving a diagnosis had previously been told they had asthma or something else, according to a survey. Bronchiectasis potentially affects hundreds of thousands of people across Europe, causing some 1,500 deaths each year in the UK. Insmed is seeking regulatory approval for brensocatib in the US, followed by applications in Europe and Japan. It is understood approval on the NHS will be sought next year.
