Doctors Achieve Medical Breakthrough Using Gene-Editing Therapy to Heal Baby with Rare Disorder
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
Hashtags
Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles
Medscape
42 minutes ago
- Medscape
Could EMR Alerts Boost Hypertension Detection?
Could a simple advisory or alert in the electronic medical record (EMR) be the key to more frequent diagnosis and effective treatment of high blood pressure (BP)? While it could help, some physicians say it's not sufficient to solve the persistent problem of hypertension. However, such alerts could be part of an effective approach to catching more cases of hypertension and helping people manage their high BP. Tackling High BP Hypertension is well-known as a 'silent killer.' Left untreated, it raises the risk for heart attack, stroke, and other life-threatening events without causing any symptoms. Hypertension is also a widespread problem. The CDC estimates that about 120 million adults in the US have high BP, defined as having a systolic BP higher than 130 mm Hg or a diastolic BP greater than 80 mm Hg (or taking medication to lower their BP). However, only about 1 in 4 adults with high BP actually have their BP under control. According to the results of a recent quality improvement study in JAMA Network Open , using technology to prompt team-based care can improve primary care hypertension control and diagnosis in the ambulatory setting. The researchers tested an intervention consisting of a high BP advisory in the EMR, along with team training, audit, and feedback. If an elevated BP reading (systolic BP ≥ 140 mm Hg or diastolic BP ≥ 90 mm Hg) was entered into the EMR, the medical assistant received an advisory to recheck the patient's BP. If the BP continued to be elevated, the EMR prompted a clinician-facing advisory, along with an order panel link. 'This study demonstrates that a paired human-technology intervention focused on team-based care and EMR integration is a fruitful approach to improving population health metrics,' the authors wrote. 'Anything that is done to alert the clinician is appropriate because of clinical inertia,' said Luke Laffin, MD, co-director of the Cleveland Clinic's Center for Blood Pressure Disorders in Cleveland, Ohio. 'There's a lot of clinical inertia in hypertension care. It breaks that inertia. I'm not surprised that this intervention works.' The Value of an Alert The idea of incorporating this type of alert into the EMR system is feasible, according to Brian Barr, MD, cardiologist at the University of Maryland Medical Center and assistant professor of medicine at the University of Maryland School of Medicine in Baltimore. 'Most modern EMRs — such as Epic, Cerner, Athenahealth, and others — are equipped with customizable clinical support tools that allow for automated reminders, alerts, and health maintenance prompts,' Barr said, adding that configurations could allow for notifications for missing BP readings or lack of documentation of BP within a particular time period. Alerts could also be quite useful to busy primary care physicians who see patients for a multitude of reasons. 'It's a reminder not to get distracted by the chief complaint syndrome,' said Brent Smith, MD, a family physician in Greenville, Mississippi and member of the board of directors for the American Academy of Family Physicians. 'It forces us not to overlook hypertension when there are other things that brought them into the doctor's office.' Using this type of tool could also identify patients with multiple elevated BP readings but no formal hypertension diagnosis, said Barr. That information could also allow physicians to follow patients more closely and confirm elevated BP in multiple settings — not just in the office, according to Blair Suter, MD, cardiologist with The Ohio State University Wexner Medical Center. 'It could be the canary in the coal mine,' he said. 'It could really be the sign of things to come or to progress to.' However, healthcare organizations must also be cautious about the possibility of contributing to electronic health record alert fatigue and instead find a balance that allows the use of technology to improve patient care without increasing the alert burden on clinicians. The authors of the study also acknowledged that some clinic managers had sustainability concerns about the time needed for BP rechecks. '[A]fter the rollout, some clinics piloted scheduling patients 10 minutes ahead of the clinician visit to increase previsit time for [medical assistants] to manage this and other population health initiatives,' they wrote. 'I think that rather than just having alerts, where people tend to get alarm fatigue, it might be more useful to focus on how we're collecting the data and how reliable it is and how much of a true reflection it is of the patient's true blood pressure when they're not in the office,' said Jeremy Bock, MD, interventional cardiologist and endovascular specialist at VHC Health in Arlington, Virginia. At-Home Monitoring Indeed, even if alerts do help, the challenge of getting patients to monitor their BP regularly at home does persist. At-home checks can seem nonurgent to them, especially if they are already taking an antihypertensive medication and feel fine. Kristen Trom, DO, family physician with Inspira Health in Mullica Hill, New Jersey, said that her organization's EMR uses an alert, but it's still a challenge to get patients to monitor their BP at home and take their medication. 'Resistance to starting medication can be a major challenge,' she said. 'Many of these patients have never been on medication before and prefer not to start.' 'It's trying to find that balance between being nonintrusive and also being part of their daily routine,' said Laffin. Physicians may need to spend more time emphasizing the importance of at-home BP monitoring and ensure patients know how to do it correctly. Prevention efforts can be time-consuming, noted Bock, but they can also improve patient-provider relationships and patient satisfaction. One important element of that process is reminding patients to use a validated BP cuff. Suter recommends directing patients to the website which is also suggested by the American Heart Association. Future Possibilities Time is often the biggest impediment for primary care providers. Eventually EMRs may be configured — along with AI — to incorporate the most effective cues and advisories, and then filter the information that would be most helpful for the physician, Smith said. 'It is getting better, and it has potential for the future,' he said. Barr added that other efforts could bolster such improvements. For example, clinic-level interventions also play a major role. 'Standardized blood pressure measurement protocols, routine use of home blood pressure monitoring, automated follow-up scheduling, and nurse-led hypertension visits can all support timely diagnosis and management,' Barr said. 'Engaging patients through portal alerts, educational messaging, and self-reported blood pressure entries adds another layer of protective care. Together, these strategies help close care gaps and support earlier identification and treatment of hypertension, ultimately improving long-term cardiovascular outcomes.'
Yahoo
an hour ago
- Yahoo
Basilea receives USD 39 million funding under BARDA agreement to continue to advance novel antifungals fosmanogepix and BAL2062
Ad hoc announcement pursuant to Art. 53 LR Allschwil, Switzerland, July 08, 2025 Basilea Pharmaceutica Ltd, Allschwil (SIX: BSLN), a commercial-stage biopharmaceutical company committed to meeting the needs of patients with severe bacterial and fungal infections, announced today that the Biomedical Advanced Research and Development Authority (BARDA), part of the Administration for Strategic Preparedness and Response (ASPR) within the U.S. Department of Health and Human Services, committed the next USD 39 million to Basilea to continue to advance the development of Basilea's novel antifungals fosmanogepix and BAL2062. This additional funding is based on the successful completion of a milestone within the 'Other Transaction Agreement' (OTA, agreement number 75A50124C00033) that was awarded on September 30, 2024, and which allows for potential funding of up to approximately USD 268 million in total to develop antifungal and antibacterial assets. David Veitch, Chief Executive Officer of Basilea, said: 'We are very pleased to receive the continued funding under the OTA with BARDA to support the development of our antifungal drug candidates fosmanogepix and BAL2062. Both compounds offer a novel mechanism of action and represent new therapeutic options for patients with aspergillosis, candidiasis or other life-threatening fungal infections. These infections primarily affect patients with weakened immune systems, such as cancer or transplant patients. Infections with difficult-to-treat rare molds or with resistance to current therapies are increasing. Hence, there continues to be a high medical need for new innovative antifungals.' He added: 'This second tranche of funding within the BARDA OTA will support the ongoing phase 3 study with fosmanogepix in yeast infections and the second phase 3 study, in mold infections, which is expected to start soon. It also provides funding for the preparation for the start of the phase 2 study for our antifungal BAL2062.' The USD 39 million is in addition to the initial USD 29 million BARDA committed at the signing of the OTA in September 2024. BARDA's financial contribution is about 60% of the total costs of the supported projects over the term of the OTA, which could provide a total potential non-dilutive funding of up to approximately USD 268 million, over up to 12 years, if all additional options to extend the contract are exercised by BARDA, upon successful completion of pre-defined milestones, including clinical and regulatory activities. About fosmanogepix Fosmanogepix is a clinical-stage broad-spectrum antifungal. It has a novel mechanism of action and its active moiety has shown activity against common species of Candida and Aspergillus, including multi-drug-resistant strains, such as Candida auris and Candida glabrata, as well as rare difficult-to-treat molds including Fusarium spp., Scedosporium spp., and some fungi from the Mucorales order.1 Fosmanogepix intravenous and oral formulations have been evaluated in clinical phase 2 studies for the treatment of patients with Candidemia, including Candida auris infections, and invasive mold infections.1 A phase 3 study evaluating fosmanogepix in the treatment of adult patients with candidemia and/or invasive candidiasis is ongoing and the initiation of a second phase 3 study, in the treatment of adult patients with invasive mold infections, is expected soon.2 Fosmanogepix has received Fast Track and Orphan Drug designations from the U.S. Food and Drug Administration for a number of indications, and is designated as a Qualified Infectious Disease Product (QIDP). About BAL2062 BAL2062 is a first-in-class antifungal, derived from a natural product, and has demonstrated fungicidal activity against clinically important molds such as Aspergillus spp., including azole-resistant strains.3 Safety and tolerability have been demonstrated in a previously completed phase 1 study with single and multiple ascending intravenous (i.v.) doses.4 The drug candidate has Qualified Infectious Disease Product (QIDP), Orphan Drug and Fast Track designation from the US Food and Drug Administration (FDA) for invasive aspergillosis. About invasive mold infections Invasive aspergillosis and invasive infections with rare molds (e.g., Fusarium spp., Scedosporium spp., and Mucorales fungi) are life-threatening infections that predominantly affect immunocompromised patients, including patients with hematologic malignancies (blood cancer), transplant patients, or patients with other immunodeficiency disorders. These infections are associated with high morbidity and mortality.5, 6 About invasive candidiasis Invasive candidiasis, including deep-seated tissue candidiasis and candidemia, is an increasingly important nosocomial infection, especially in patients hospitalized in intensive care units. Candida species are ranked as the fourth main cause of bloodstream infections in hospitals in the US.7 The prognosis of invasive candidiasis remains difficult, with a reported mortality rate for invasive candidiasis as high as 40%, even when patients receive antifungal therapy.8 About Basilea Basilea is a commercial-stage biopharmaceutical company founded in 2000 and headquartered in Switzerland. We are committed to discovering, developing and commercializing innovative drugs to meet the needs of patients with severe bacterial and fungal infections. We have successfully launched two hospital brands, Cresemba for the treatment of invasive fungal infections and Zevtera for the treatment of bacterial infections. In addition, we have preclinical and clinical anti-infective assets in our portfolio. Basilea is listed on the SIX Swiss Exchange (SIX: BSLN). Please visit Disclaimer This communication expressly or implicitly contains certain forward-looking statements, such as "believe", "assume", "expect", "forecast", "project", "may", "could", "might", "will" or similar expressions concerning Basilea Pharmaceutica Ltd, Allschwil and its business, including with respect to the progress, timing and completion of research, development and clinical studies for product candidates. Such statements involve certain known and unknown risks, uncertainties and other factors, which could cause the actual results, financial condition, performance or achievements of Basilea Pharmaceutica Ltd, Allschwil to be materially different from any future results, performance or achievements expressed or implied by such forward-looking statements. Basilea Pharmaceutica Ltd, Allschwil is providing this communication as of this date and does not undertake to update any forward-looking statements contained herein as a result of new information, future events or otherwise. This project has been funded in part with federal funds from the U.S. Department of Health and Human Services (HHS); Administration for Strategic Preparedness and Response (ASPR); Biomedical Advanced Research and Development Authority (BARDA), under OT number: 75A50124C00033. The contract and federal funding are not an endorsement of the study results, product, or company. For further information, please contact: Peer Nils Schröder, PhD Head of Corporate Communications & Investor RelationsBasilea Pharmaceutica International Ltd, Allschwil Hegenheimermattweg 167b4123 AllschwilSwitzerland Phone +41 61 606 1102 E-mail media_relations@ This ad hoc announcement can be downloaded from References K. J. Shaw, A. S. Ibrahim. Fosmanogepix: A Review of the First-in-Class Broad Spectrum Agent for the Treatment of Invasive Fungal Infections. Journal of Fungi (Basel) 2020 (6), 239 FAST study (candidemia/invasive candidiasis): identifier NCT05421858; FORWARD study (invasive mold infections): identifier NCT06925321 K. J. Shaw. GR-2397: Review of the Novel Siderophore-like Antifungal Agent for the Treatment of Invasive Aspergillosis. Journal of Fungi (Basel) 2022 (8), 909 identifier NCT02956499: M. P. Mammen, D. Armas, F. H. Hughes et al. First-in-Human Phase 1 Study To Assess Safety, Tolerability, and Pharmacokinetics of a Novel Antifungal Drug, VL-2397, in Healthy Adults. Antimicrobial Agents and Chemotherapy 2019 (63), e00969-19 J. Cadena, G. R. Thompson 3rd, T. F. Patterson. Aspergillosis: Epidemiology, Diagnosis, and Treatment. Infectious Disease Clinics of North America 2021 (35), 415-434 M. Slavin, S. van Hal, T. C. Sorrell et al. Invasive infections due to filamentous fungi other than Aspergillus: epidemiology and determinants of mortality. Clinical Microbiology and Infection 2015 (21), 490.e1-490.e10 Candidemia (Blood Infection) and Other Candida Infections. 2019 Factsheet by the American Thoracic Society: (Accessed: July 07, 2025) B. J. Kullberg, M. C. Arendrup. Invasive Candidiasis. The New England Journal of Medicine 2015 (373), 1445-1456 Attachment Press release (PDF)
Yahoo
an hour ago
- Yahoo
Basilea receives USD 39 million funding under BARDA agreement to continue to advance novel antifungals fosmanogepix and BAL2062
Ad hoc announcement pursuant to Art. 53 LR Allschwil, Switzerland, July 08, 2025 Basilea Pharmaceutica Ltd, Allschwil (SIX: BSLN), a commercial-stage biopharmaceutical company committed to meeting the needs of patients with severe bacterial and fungal infections, announced today that the Biomedical Advanced Research and Development Authority (BARDA), part of the Administration for Strategic Preparedness and Response (ASPR) within the U.S. Department of Health and Human Services, committed the next USD 39 million to Basilea to continue to advance the development of Basilea's novel antifungals fosmanogepix and BAL2062. This additional funding is based on the successful completion of a milestone within the 'Other Transaction Agreement' (OTA, agreement number 75A50124C00033) that was awarded on September 30, 2024, and which allows for potential funding of up to approximately USD 268 million in total to develop antifungal and antibacterial assets. David Veitch, Chief Executive Officer of Basilea, said: 'We are very pleased to receive the continued funding under the OTA with BARDA to support the development of our antifungal drug candidates fosmanogepix and BAL2062. Both compounds offer a novel mechanism of action and represent new therapeutic options for patients with aspergillosis, candidiasis or other life-threatening fungal infections. These infections primarily affect patients with weakened immune systems, such as cancer or transplant patients. Infections with difficult-to-treat rare molds or with resistance to current therapies are increasing. Hence, there continues to be a high medical need for new innovative antifungals.' He added: 'This second tranche of funding within the BARDA OTA will support the ongoing phase 3 study with fosmanogepix in yeast infections and the second phase 3 study, in mold infections, which is expected to start soon. It also provides funding for the preparation for the start of the phase 2 study for our antifungal BAL2062.' The USD 39 million is in addition to the initial USD 29 million BARDA committed at the signing of the OTA in September 2024. BARDA's financial contribution is about 60% of the total costs of the supported projects over the term of the OTA, which could provide a total potential non-dilutive funding of up to approximately USD 268 million, over up to 12 years, if all additional options to extend the contract are exercised by BARDA, upon successful completion of pre-defined milestones, including clinical and regulatory activities. About fosmanogepix Fosmanogepix is a clinical-stage broad-spectrum antifungal. It has a novel mechanism of action and its active moiety has shown activity against common species of Candida and Aspergillus, including multi-drug-resistant strains, such as Candida auris and Candida glabrata, as well as rare difficult-to-treat molds including Fusarium spp., Scedosporium spp., and some fungi from the Mucorales order.1 Fosmanogepix intravenous and oral formulations have been evaluated in clinical phase 2 studies for the treatment of patients with Candidemia, including Candida auris infections, and invasive mold infections.1 A phase 3 study evaluating fosmanogepix in the treatment of adult patients with candidemia and/or invasive candidiasis is ongoing and the initiation of a second phase 3 study, in the treatment of adult patients with invasive mold infections, is expected soon.2 Fosmanogepix has received Fast Track and Orphan Drug designations from the U.S. Food and Drug Administration for a number of indications, and is designated as a Qualified Infectious Disease Product (QIDP). About BAL2062 BAL2062 is a first-in-class antifungal, derived from a natural product, and has demonstrated fungicidal activity against clinically important molds such as Aspergillus spp., including azole-resistant strains.3 Safety and tolerability have been demonstrated in a previously completed phase 1 study with single and multiple ascending intravenous (i.v.) doses.4 The drug candidate has Qualified Infectious Disease Product (QIDP), Orphan Drug and Fast Track designation from the US Food and Drug Administration (FDA) for invasive aspergillosis. About invasive mold infections Invasive aspergillosis and invasive infections with rare molds (e.g., Fusarium spp., Scedosporium spp., and Mucorales fungi) are life-threatening infections that predominantly affect immunocompromised patients, including patients with hematologic malignancies (blood cancer), transplant patients, or patients with other immunodeficiency disorders. These infections are associated with high morbidity and mortality.5, 6 About invasive candidiasis Invasive candidiasis, including deep-seated tissue candidiasis and candidemia, is an increasingly important nosocomial infection, especially in patients hospitalized in intensive care units. Candida species are ranked as the fourth main cause of bloodstream infections in hospitals in the US.7 The prognosis of invasive candidiasis remains difficult, with a reported mortality rate for invasive candidiasis as high as 40%, even when patients receive antifungal therapy.8 About Basilea Basilea is a commercial-stage biopharmaceutical company founded in 2000 and headquartered in Switzerland. We are committed to discovering, developing and commercializing innovative drugs to meet the needs of patients with severe bacterial and fungal infections. We have successfully launched two hospital brands, Cresemba for the treatment of invasive fungal infections and Zevtera for the treatment of bacterial infections. In addition, we have preclinical and clinical anti-infective assets in our portfolio. Basilea is listed on the SIX Swiss Exchange (SIX: BSLN). Please visit Disclaimer This communication expressly or implicitly contains certain forward-looking statements, such as "believe", "assume", "expect", "forecast", "project", "may", "could", "might", "will" or similar expressions concerning Basilea Pharmaceutica Ltd, Allschwil and its business, including with respect to the progress, timing and completion of research, development and clinical studies for product candidates. Such statements involve certain known and unknown risks, uncertainties and other factors, which could cause the actual results, financial condition, performance or achievements of Basilea Pharmaceutica Ltd, Allschwil to be materially different from any future results, performance or achievements expressed or implied by such forward-looking statements. Basilea Pharmaceutica Ltd, Allschwil is providing this communication as of this date and does not undertake to update any forward-looking statements contained herein as a result of new information, future events or otherwise. This project has been funded in part with federal funds from the U.S. Department of Health and Human Services (HHS); Administration for Strategic Preparedness and Response (ASPR); Biomedical Advanced Research and Development Authority (BARDA), under OT number: 75A50124C00033. The contract and federal funding are not an endorsement of the study results, product, or company. For further information, please contact: Peer Nils Schröder, PhD Head of Corporate Communications & Investor RelationsBasilea Pharmaceutica International Ltd, Allschwil Hegenheimermattweg 167b4123 AllschwilSwitzerland Phone +41 61 606 1102 E-mail media_relations@ This ad hoc announcement can be downloaded from References K. J. Shaw, A. S. Ibrahim. Fosmanogepix: A Review of the First-in-Class Broad Spectrum Agent for the Treatment of Invasive Fungal Infections. Journal of Fungi (Basel) 2020 (6), 239 FAST study (candidemia/invasive candidiasis): identifier NCT05421858; FORWARD study (invasive mold infections): identifier NCT06925321 K. J. Shaw. GR-2397: Review of the Novel Siderophore-like Antifungal Agent for the Treatment of Invasive Aspergillosis. Journal of Fungi (Basel) 2022 (8), 909 identifier NCT02956499: M. P. Mammen, D. Armas, F. H. Hughes et al. First-in-Human Phase 1 Study To Assess Safety, Tolerability, and Pharmacokinetics of a Novel Antifungal Drug, VL-2397, in Healthy Adults. Antimicrobial Agents and Chemotherapy 2019 (63), e00969-19 J. Cadena, G. R. Thompson 3rd, T. F. Patterson. Aspergillosis: Epidemiology, Diagnosis, and Treatment. Infectious Disease Clinics of North America 2021 (35), 415-434 M. Slavin, S. van Hal, T. C. Sorrell et al. Invasive infections due to filamentous fungi other than Aspergillus: epidemiology and determinants of mortality. Clinical Microbiology and Infection 2015 (21), 490.e1-490.e10 Candidemia (Blood Infection) and Other Candida Infections. 2019 Factsheet by the American Thoracic Society: (Accessed: July 07, 2025) B. J. Kullberg, M. C. Arendrup. Invasive Candidiasis. The New England Journal of Medicine 2015 (373), 1445-1456 Attachment Press release (PDF)
