Latest news with #Children'sHospitalofPhiladelphia
Yahoo
2 days ago
- General
- Yahoo
World's first patient treated with CRISPR gene editing therapy at CHOP returns home
The Brief A ten-month-old baby who has been at the Children's Hospital of Philadelphia (CHOP) since birth finally got to go home with his family. KJ Muldoon made headlines around the globe a few weeks ago for being the first person in the world to receive a breakthrough gene editing therapy that is customized to the patient. The family said after KJ received three infusions in February, March and April. Doctors said the results are very promising so far. CLIFTON HEIGHTS, Pa. - An emotional homecoming occurred in Delaware County for a ten-month-old baby named KJ Muldoon who made headlines around the globe just a few weeks ago. The backstory KJ was born on August 1 and diagnosed with a rare metabolic disease called CPS1 that causes ammonia to build up to a toxic level in the body. In February, doctors treated the infant with a breakthrough and historic CRISPR gene editing therapy, making KJ the very first patient in the world to receive this kind of personalized treatment. KJ received additional infusions of the experimental therapy in March and April. Doctors have told his parents the results so far are very promising. What's New "We went through all of the emotions. You're excited, you're nervous, but we're just glad that he's finally able to be home with us," said Nicole Muldoon, KJ's mother. "We've been operating like five plus one for so long and we're excited to be the six of us moving forward." "We're trying to meet all his developmental milestones and kind of see what he's capable of, but he's already shown us how special he is and I think we're in for a treat." KJ's family and friends hung up welcome home signs and colorful balloons as they waited in anticipation for his homecoming in Clifton Heights. "It's just been a really long fight for him," said Dee Aaron, KJ's grandmother. "Miracles do happen, and it really is a miracle. We didn't think he'd be here." "We're so happy you're home big guy," said Cathy Franklin, KJ's great-grandmother. "He's beautiful, and his parents have been remarkable just remarkable. Stayed so strong and we just prayed for ten months. Here he is!" The staff at CHOP dressed KJ up in a graduation cap and gown for his send-off, and they sent him out the hospital doors in great numbers, cheering on his health and recovery. Once the family made it out of the hospital, police from Upper Darby and Radnor Township escorted the family from CHOP all the way to Clifton Heights. The nonprofit The Delco Group helped arrange the special police escort. "We made one phone call yesterday with Ken Piree from Radnor right to Upper Darby Township. It was just within seconds and that's what you get in Delaware County. Everybody gets each other's back here," said John Port of The Delco Group. What you can do The community has also raised tens of thousands of dollars in a gofundme campaign which will now help support KJ's medical needs moving forward.
Yahoo
4 days ago
- General
- Yahoo
Children's Hospital of Philadelphia Hosts 29th Annual Fetal Surgery Family Reunion at Philadelphia Zoo
More than 2,500 people gathered to celebrate at the Lori J. Howell Fetal Family Reunion, an event for children treated by CHOP's world-renowned fetal therapy team PHILADELPHIA, June 2, 2025 /PRNewswire/ -- Yesterday, over 900 families totaling more than 2,500 guests gathered at the Philadelphia Zoo to celebrate Children's Hospital of Philadelphia's (CHOP) 29th annual reunion for patients and families treated at the Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment (CFDT). Now in its second year as the Lori J. Howell Fetal Family Reunion, the event honors the late Lori J. Howell, a pioneering nurse leader, mentor, and longtime executive director of the CFDT whose vision continues to shape fetal medicine worldwide. "This reunion is a powerful reminder of the strength and resilience of our families, and of the deep bonds that connect them to one another and to our team," said N. Scott Adzick, MD, Surgeon-In-Chief at CHOP and Director of the CFDT. "It's incredibly special to witness this community grow stronger each year. It continues to be our favorite annual event, and our team is honored to play a part in the lives of the families who attend." The annual reunion provides a joyful opportunity for families to reconnect with the CHOP clinical teams who helped care for them during their most critical moments. Many of the children in attendance were diagnosed prenatally with serious birth defects—such as spina bifida, congenital diaphragmatic hernia, or twin-twin transfusion syndrome, among others—and underwent either fetal surgery before birth or received highly specialized care immediately after delivery. Now decades strong, the event has grown from a handful of families in 1997 to more than 900 families attending annually, forming a vibrant and supportive global community. This year, attendees traveled from states including Florida, Maine, Illinois and Connecticut. Since opening its doors in 1995, the CFDT at CHOP has become the world's largest and most comprehensive fetal program. More than 32,000 expectant mothers from all 50 states and over 70 countries have turned to the CFDT for hope and options. With more than 2,400 fetal surgeries performed to date, the CFDT has helped transform fetal surgery from a groundbreaking concept into a life-changing reality for families around the globe. Patients and families experience the highest level of care for complex fetal surgeries at CHOP. Our surgical teams specialize in advanced procedures to treat a variety of birth defects, ensuring the best possible outcomes for both mother and baby, providing expert care from prenatal diagnosis to delivery in CHOP's Garbose Family Special Delivery Unit, and beyond. About Children's Hospital of Philadelphia:A non-profit, charitable organization, Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals, and pioneering major research initiatives, the hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country. The institution has a well-established history of providing advanced pediatric care close to home through its CHOP Care Network, which includes more than 50 primary care practices, specialty care and surgical centers, urgent care centers, and community hospital alliances throughout Pennsylvania and New Jersey. CHOP also operates the Middleman Family Pavilion and its dedicated pediatric emergency department in King of Prussia, the Behavioral Health and Crisis Center (including a 24/7 Crisis Response Center) and the Center for Advanced Behavioral Healthcare, a mental health outpatient facility. Its unique family-centered care and public service programs have brought Children's Hospital of Philadelphia recognition as a leading advocate for children and adolescents. For more information, visit Contact: Kaila M. RevelloChildren's Hospital of Philadelphia610-457-5916contikm@ View original content to download multimedia: SOURCE Children's Hospital of Philadelphia Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
Business Wire
16-05-2025
- Business
- Business Wire
Acuitas Therapeutics Showcases Collaboration with Children's Hospital of Philadelphia for Personalized CRISPR Therapy and New LNP Research at ASGCT 2025
VANCOUVER, British Columbia--(BUSINESS WIRE)-- Acuitas Therapeutics, a global leader in lipid nanoparticle (LNP) delivery systems for the acceleration of partners' clinical development, recently showcased its latest development work in next-generation LNP delivery vehicles at the 2025 American Society of Gene & Cell Therapy (ASGCT) annual meeting in New Orleans. Alongside this, Acuitas' partners at the Children's Hospital of Philadelphia (CHOP) and the University of Pennsylvania presented a groundbreaking single-patient clinical trial at the conference, evaluating a personalized CRISPR gene-editing therapy. 'The data we presented at ASGCT, combined with our collaboration with Children's Hospital of Philadelphia, among others, continues to validate the strong safety profile of our LNP platform ..." Share Specifically, Acuitas' key findings presented at ASGCT, through two poster presentations and one oral presentation, highlight different aspects of the company's research. These include expanding the range of targets for LNP delivery by incorporating DARPin ligands — as demonstrated through in vivo T-cell delivery — and the development of more predictive mouse and nonhuman primate (NHP) models to assess factors related to delivery efficiency and safety. 'At Acuitas, we're incredibly proud of the progress we've made in enhancing the safety and efficacy of our lipid nanoparticle delivery systems,' said Dr. Thomas Madden, President & CEO of Acuitas Therapeutics. 'The data we presented at ASGCT, combined with our collaboration with Children's Hospital of Philadelphia and the University of Pennsylvania, among others, continues to validate the strong safety profile of our LNP platform — particularly its ability to be safely redosed, which is critically important in a single patient clinical trial. We're continually advancing our LNP formulations to expand targeting beyond the liver, to enable safe repeat dosing, and to provide other innovative solutions that support our partners across a broad range of therapeutic programs.' Acuitas' LNP Formulation Used in Single-Patient Clinical Trial for a Personalized CRISPR Therapeutic In a landmark clinical trial, CHOP and the University of Pennsylvania, with innovations from Acuitas, successfully delivered the world's first personalized LNP-delivered CRISPR gene-editing therapy to treat an infant with urea cycle disorder (UCD). Leveraging the combined expertise and capabilities of all partners, including payload manufacturing from Aldevron and Integrated DNA Technologies (IDT), the therapy was developed, manufactured and delivered to the patient in just six months — an unprecedented achievement in the field of gene-editing therapeutics. This study, recently published in The New England Journal of Medicine, investigated a proof-of-concept personalized CRISPR therapy for an infant with UCD — a genetic condition in which the patient is unable to process protein properly, leading to the accumulation of high levels of ammonia in the blood, resulting in serious health problems, or even death. The therapy was composed of an mRNA encoding a CRISPR enzyme and guide RNA, encapsulated in Acuitas' LNP formulation composed of ionizable lipid ALC-0307™ and PEG-lipid ALC-0159™. The therapy was administered to the patient at three separate timepoints with no adverse effects. These results validate Acuitas' LNP platform for delivery of next-generation gene-editing therapies, particularly in patient-specific contexts. 'What made this collaboration exceptional wasn't just the science — it was the shared commitment to transforming how patients receive care,' said Dr. Madden. 'Working alongside Children's Hospital of Philadelphia, University of Pennsylvania, Aldevron, and IDT, we aligned our capabilities to deliver a personalized CRISPR therapy in an impressive six months. This model of cross-functional partnerships establishes a blueprint for how future personalized therapies can be co-developed efficiently, safely, and with direct patient impact in mind.' Acuitas Therapeutics' Research Presented at ASGCT Extrahepatic LNP Delivery Using Proprietary Athebody® DARPin-Conjugated LNP Formulations To expand LNP delivery beyond the liver, Acuitas evaluated an 'active' targeting approach to LNP delivery using Athebody ® designed ankyrin repeat proteins (DARPins) — antibody mimetic proteins that act as high-affinity and high-specificity ligands for delivery to specific target cells. The results seen were: Non-targeting LNP formulations showed <2% engagement in murine lymphocytes DARPin-conjugated LNP achieved up to 86% binding and 59% transgene expression in murine CD8+ T cells In human CD8+ T-cell samples, the DARPin-conjugated LNP achieved ~98% binding with 46% to 90% expression 'These results represent a significant step forward in enhancing the precision of LNP therapeutics,' said Dr. Ying Tam, CSO of Acuitas Therapeutics. 'By utilizing targeting ligands such as Athebody DARPin in our LNP formulations, we've enabled targeted mRNA delivery to specific target cells such as CD8+ T cells. This research sets the stage for new therapeutic strategies for many other potential beyond-the-liver indications.' Improved Mice and NHP Models for Better, Safer LNP-Based Delivery In an NHP study, presented in an oral abstract session, three lead LNP formulations were given intravenously to NHP at 0.5 or 1.5 mg/kg monthly for three months. Results showed that the LNP formulations were highly active using two different mRNA payloads, and exhibited consistent pharmacodynamic, pharmacokinetic and toxicity profiles with repeated administration. Histopathology revealed mild, non-adverse, and predictable effects in the liver, spleen, and adrenal glands, supporting the feasibility and safety of the LNP. To complement these findings and address species-specific limitations in current models for investigating LNP delivery, Acuitas presented a poster that evaluated PXB-mice — a humanized liver model — for their predictive utility in mRNA-LNP delivery and development. Three LNP candidates (LNP07, LNP09, and LNP13) were assessed, with LNP13 showing the greatest activity, and excellent tolerability at doses up to 5.0 mg/kg. Broad liver distribution and slightly delayed mRNA expression in human hepatocytes were observed, reinforcing the model's value in studying human-specific responses to LNP-based therapies. More information on these findings can be found on the Acuitas website. About Acuitas Therapeutics Acuitas Therapeutics is a global leader in lipid nanoparticle (LNP) technology and partners with pharmaceutical and biotechnology companies, as well as non-governmental organizations and academic institutions, to advance nucleic acid therapeutics into clinical development and commercialization. Acuitas' clinically validated LNP technology is applied in the Pfizer-BioNTech COVID-19 vaccine, COMIRNATY®, and Alnylam Pharmaceuticals' ONPATTRO® for the treatment of transthyretin amyloidosis. Current efforts focus on enhancing LNP to advance novel gene therapies and identifying potent new lipids to enable partners to develop vaccines for infectious diseases, multivalent vaccines, and novel therapeutic vaccines against cancer, including personalized cancer vaccines. For more information, visit
CTV News
15-05-2025
- Health
- CTV News
Gene editing helped a desperately ill baby thrive. Scientists say it could someday treat millions
KJ Muldoon is seen after a follow-up dose of an experimental gene editing treatment in Philadelphia in April 2025. (Chloe Dawson/Children's Hospital of Philadelphia via AP) 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 1/2-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 US$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.' ———- Laura Ungar, The Associated Press The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institute's Science and Educational Media Group and the Robert Wood Johnson Foundation. The AP is solely responsible for all content.
Yahoo
23-04-2025
- Automotive
- Yahoo
Ryan Twp. children injured in UTV crash in farm field
Two Ryan Twp. children were flown by helicopter to Lehigh Valley Hospital Cedar Crest- Allentown after a UTV crash Saturday in the township. State police at Frackville said the accident happened at 1:16 p.m. on private property in a farm field in the area of 41 Front St. as a 10-year-old female was driving a Polaris Ranger UTV with her 5-year-old brother as a passenger. She lost control and hit a large tree, throwing her brother from the vehicle, police said. Both children were flown by helicopter to the hospital, police said. Ryan Twp. Fire Chief Tom Price responded. He said neither child was wearing a helmet. The girl was in and out of consciousness and the boy was not conscious, he said. The boy remained a patient at Children's Hospital of Philadelphia (CHOP), Price said on Wednesday. The girl is believed to have been discharged from a hospital, he said. Any operator of an ATV or UTV is required to wear a helmet, according to Pennsylvania's All-Terrain Vehicle law. 'No one under 8 years of age shall operate an ATV on any state-owned property. No person from age 8 to their 16th birthday shall operate an ATV except on lands of his parent or guardian, unless he or she has completed a prescribed ATV safety training course and received an ATV safety training certificate,' according to To help the family defray medical expenses, Ryan Twp. Fire and Rescue is holding a special online raffle with 100% of the proceeds benefiting the family of the injured children. As of 2 p.m. Wednesday, $3,000 has been raised for the family, Price said. Tickets for the raffle are $10 for $600 worth of lottery tickets. The drawing is April 30 at 5 p.m. More information about the online raffle is available on the fire company's Facebook page, Fire District 26 Ryan Twp Fire/Rescue
