(Press-News.org) An investigational gene therapy has successfully restored immune function in all nine children treated with the rare and life-threatening immune disorder called severe leukocyte adhesion deficiency-I, or LAD-I, in an international clinical trial co-led by UCLA.
LAD-I is a genetic condition that affects approximately one in a million people in the world. It is caused by mutations in the gene that produces CD18, a protein that enables white blood cells to travel from the bloodstream to infection sites. In the absence of this critical protein, individuals with severe LAD-I — most of whom are diagnosed within their first months of life — are left vulnerable to dangerous, recurrent bacterial and fungal infections. Survival beyond childhood is rare without treatment.
In a study published today in the New England Journal of Medicine, senior author Dr. Donald Kohn reports two-year outcomes for nine patients aged 5 months to 9 years who received the therapy across three clinical trial sites: UCLA Mattel Children’s Hospital, Great Ormond Street Hospital in London, or GOSH, and the Hospital Infantil Universitario Niño Jesús in Madrid. Dr. Claire Booth, leader of the London trial site, and Dr. Julian Sevilla, leader of the Madrid site, are co-lead authors.
All nine children in the trial — a small cohort because the condition is so rare — responded well to the treatment and are living with no disease symptoms. Their skin lesions and severely inflamed gums, hallmarks of LAD-I, have resolved, and they are able to fight off infections like their peers who were born with healthy immune systems.
“These children are no longer defined by their diagnosis,” said Kohn, a distinguished professor of microbiology, immunology and molecular genetics and a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA. “Seeing them healthy and thriving without serious infections, without frequent hospital visits, is a testament to how consistently beneficial this therapy is.”
How LAD-I gene therapy restores immune function
The only currently available treatment for LAD-I is a bone marrow transplant from a matched stem cell donor. For those individuals lucky enough to find a matched donor, bone marrow transplants still carry the risk of life-threatening side effects including graft-versus-host disease, a condition in which donated cells attack the recipient’s body.
The investigational therapy, developed by Rocket Pharmaceuticals, Inc., genetically corrects patients’ blood stem cells, allowing them to become their own stem cell donor and potentially eliminating many of the known risks of bone marrow transplants. First, patients’ blood stem cells are collected and then amended using a lentiviral vector, a modified virus designed to safely deliver genetic material into cells. The vector carries a functional copy of the affected gene coding for CD18 to the patients’ blood stem cells, which are then infused back to the patient to produce healthy immune cells capable of fighting infections.
Kohn and his colleagues report that all patients were found to have sufficient levels of the CD18 protein, normalized white blood cell counts and significantly fewer severe infections requiring hospitalization. Additionally, no severe adverse events related to the gene therapy were reported, and all patients remain free of graft failure or adverse immune reaction.
UCLA’s role in the next steps of the clinical trial
Of the nine patients, six have enrolled in a long-term follow-up study through UCLA, where they will be monitored for a total of 15 years each to assess the therapy’s sustained efficacy and safety.
The trial’s results underscore the potential of gene therapy to provide “durable, life-changing benefits” for individuals with rare genetic disorders, said Kohn, who is also a distinguished professor of pediatrics and molecular and medical pharmacology at the David Geffen School of Medicine at UCLA.
The gene therapy is currently under review by the U.S. Food and Drug Administration, which is reviewing the Biologics License Application. A successful outcome will support the opportunity to treat more children so they can also achieve healthier lives.
“This therapy presents a new path forward in treating these rare immune conditions and reducing the burdens and risks for patients,” said Booth, a consultant in pediatric immunology and gene therapy at GOSH. “It’s a momentous breakthrough for families facing this devastating disease.”
One family’s LAD-I journey
Three of the patients who received the therapy at UCLA share more than a diagnosis — they share a familial bond. Jon and Alicia Langenhop’s three children — Ava, now 9, Olivia, 7, and Landon, 5 — were all born with severe LAD-I. Their early years were consumed by relentless infections, emergency hospital visits and mounting medical uncertainty.
“It felt like we were fighting an uphill battle every day,” Alicia recalled. “Every fever, every rash, was terrifying. We were constantly bracing for the worst.”
In 2020, the family’s journey took a pivotal turn when the children enrolled in the gene therapy trial at UCLA. Relocating to Los Angeles from Ohio during the height of the COVID-19 pandemic wasn’t easy, but Jon and Alicia felt the decision was clear. “The risks were so minimal compared to the potential reward,” Jon said. “We knew we had to take this chance for our kids.”
The therapy proved to be life-changing. Today, the siblings lead the kind of vibrant, carefree lives their parents feared might never be possible. Activities like attending school, playing outside and navigating the everyday bumps and scrapes of childhood — once unimaginable — are now part of their routine, and their immune systems are holding strong.
Gone are the days of near-constant doctor visits and prolonged hospital stays. Instead, the siblings now bond over shared memories of their journey, their stories serving as testaments to resilience and hope. “They’ve been through so much together, and it’s made them stronger,” Alicia said.
The license for this investigational lentiviral gene therapy is currently held by Rocket Pharmaceuticals, Inc. Rocket's research into LAD-I was funded in collaboration with the California Institute for Regenerative Medicine. The therapy has not yet been approved for clinical use by any regulatory authority.
END
Gene therapy restores immune function and extends lives of children with rare immune disorder
9 children born with severe LAD-l are symptom-free two years after treatment
2025-04-30
ELSE PRESS RELEASES FROM THIS DATE:
VCU-led research highlights semaglutide’s potential for treating fatty liver disease
2025-04-30
EMBARGOED FOR RELEASE
5 PM EDT, APRIL 30
CONTACT: A.J. Hostetler
VCU Stravitz-Sanyal Institute for Liver Disease and Metabolic Health
Phone: 804-543-8656 (cell)
Email: AJ.Hostetler@vcuhealth.org
VCU-led research highlights semaglutide’s potential for treating fatty liver disease
International study shows drug reverses liver damage in patients.
RICHMOND, Va. (April 30, 2025) – An international study led by the director of Virginia Commonwealth University’s liver institute suggests that the substance in Ozempic and Wegovy can halt and even reverse a common liver disease that affects millions worldwide.
Led by Arun Sanyal, M.D., of the Stravitz-Sanyal Institute ...
Does your biological age affect your risk of dementia?
2025-04-30
MINNEAPOLIS — People whose biological age is higher than their chronological age may be more likely to develop dementia than people whose biological age matches or is lower than their chronological age, according to a study published on April 30, 2025, online in Neurology®, the medical journal of the American Academy of Neurology. Biological age is based on biomarkers of aging such as lung function, blood pressure and cholesterol.
The study does not prove that advanced biological age causes dementia; it only shows an association.
“With the rising impact of dementia around the world, identifying risk factors and implementing preventive ...
Research collaboration charts global four-stage evolution of inflammatory bowel disease
2025-04-30
Researchers with the University of Calgary and the Chinese University of Hong Kong (CUHK) led an international collaboration that found inflammatory bowel disease (IBD) progresses through four predictable epidemiological stages as it spreads globally. Published in Nature, the study forecasts a major rise in IBD prevalence in Canada by 2045. Researchers say pinpointing where each region sits on the trajectory gives health-care systems a clear roadmap for anticipating and managing IBD today and in the decades to follow.
“Our analysis draws on a century worth of historical epidemiologic data. The findings enable health authorities ...
Ecological Society of America announces 2025 Fellows
2025-04-30
The Ecological Society of America is pleased to announce its 2025 Fellows. The Society’s fellowship program recognizes the many ways in which its members contribute to ecological research, communication, education, management and policy. This year, the ESA Governing Board has confirmed eight new Fellows and ten new Early Career Fellows.
Fellows are members who have made outstanding contributions to a wide range of fields served by ESA, including, but not restricted to, those that advance or apply ecological knowledge in academics, ...
Critically endangered axolotls bred in captivity appear able to survive release into both artificial and restored Mexican wetlands, but may need specific temperatures to thrive
2025-04-30
Critically endangered axolotls bred in captivity appear able to survive release into both artificial and restored Mexican wetlands, but may need specific temperatures to thrive
Article URL: https://plos.io/3RSL1bu
Article title: Movement ecology of captive-bred axolotls in restored and artificial wetlands: Conservation insights for amphibian reintroductions and translocations
Author countries: Mexico
Funding: This project was funded by UNAM PAPIIT No. 705 IV200117 and IV210117 Programa de Apoyo a Proyectos de Investigación e Innovación Tecnológica (PAPIIT-IV200117) ...
Tunnel vision during planning can lead us to neglect negative consequences, but this cognitive bias can be addressed by simply prompting people to explicitly consider them
2025-04-30
Tunnel vision during planning can lead us to neglect negative consequences, but this cognitive bias can be addressed by simply prompting people to explicitly consider them
Article URL: https://plos.io/42yZBtL
Article title: Side effects may include: Consequence neglect in generating solutions
Author countries: U.S.
Funding: The author(s) received no specific funding for this work. END ...
2.1 kids per woman might not be enough for population survival
2025-04-30
Human populations need at least 2.7 children per woman – a much higher fertility rate than previously believed – to reliably avoid long-term extinction, according to a new study published April 30, 2025 in the open-access journal PLOS One by Takuya Okabe of Shizuoka University, Japan, and colleagues.
While a fertility rate of 2.1 children per woman is often considered the replacement level needed to sustain a population, this figure doesn’t account for random differences in how many children people have – as well as mortality ...
New “hidden in plain sight” facial and eye biomarkers for tinnitus severity could unlock path to testing treatments
2025-04-30
Researchers at Mass General Brigham have identified new biomarkers for tinnitus by measuring pupil dilation and subtle facial movements that correlate with the level of distress caused by the disorder. Published in Science Translational Medicine, the findings could lead to placebo-controlled treatment studies that have largely been not feasible due to lack of objective measures.
“Imagine if cancer severity were determined by giving patients a questionnaire – this is the state of affairs for some common neurological disorders like tinnitus,” said corresponding author Daniel Polley, ...
“Explainable” AI cracks secret language of sticky proteins
2025-04-30
An AI tool has made a step forward in translating the language proteins use to dictate whether they form sticky clumps similar to those linked to Alzheimer’s Disease and around fifty other types of human disease. In a departure from typical “black-box” AI models, the new tool, CANYA, was designed to be able to explain its decisions, revealing the specific chemical patterns that drive or prevent harmful protein folding.
The discovery, published today in the journal Science Advances, was possible thanks to the largest-ever dataset on protein aggregation created to date. The study gives new insights about the molecular mechanisms underpinning sticky proteins, which are ...
Setting, acute reaction and mental health history shape ayahuasca's longer-term psychological effects
2025-04-30
Mounting evidence supports ayahuasca’s potential to improve mental health, but its long-term effects are shaped by both individual mental health history and the context in which the psychedelic is used, according to a study published on April 30, 2025 in the open-access journal PLOS Mental Health by Óscar Andión from Research Sherpas, Spain; José Carlos Bouso from the International Centre for Ethnobotanical Education, Research, and Services (ICEERS) and the University of Rovira i Virgili, Spain; Daniel Perkins from the University of Melbourne and Swinburne University; and colleagues.
Ayahuasca, a psychedelic medicine traditionally ...
LAST 30 PRESS RELEASES:
A map for single-atom catalysts
What about tritiated water release from Fukushima? Ocean model simulations provide an objective scientific knowledge on the long-term tritium distribution
Growing crisis of communicable disease in Canada in tandem with US cuts
Women get better at managing their anger as they age
Illegal shark product trade evident in Australia and New Zealand
New search tool brings 21% better accuracy for robotics developers
New model extracts sentence-level proof to verify events, boosting fact-checking accuracy for journalists, legal teams, and policymakers
Efficient carbon integration of CO₂ in propane aromatization over acidic zeolites
FPGA-accelerated AI for demultiplexing multimode fiber towards next-generation communications
Vitamin D3 nanoemulsion significantly improves core symptoms in children with autism: A clinical trial
Microfluidic point-of-care device accurately measures bilirubin in blood serum: A pilot study
Amygdalin shows strong binding and stabilizing effects on HER2 receptor: A computational study for breast cancer therapy
Bond behavior of FRP bars in concrete under reversed cyclic loading: an experimental study
Milky Way-like galaxy M83 consumes high-speed clouds
Study: What we learned from record-breaking 2021 heat wave and what we can expect in the future
Transforming treatment outcomes for people with OCD
Damage from smoke and respiratory viruses mitigated in mice via a common signaling pathway
New software tool could help better understand childhood cancer
Healthy lifestyle linked to lower diverticulitis risk, irrespective of genetic susceptibility
Women 65+ still at heightened risk of cervical cancer caused by HPV
‘Inflammatory’ diet during pregnancy may raise child’s diabetes type 1 risk
Effective therapies needed to halt rise in eco-anxiety, says psychology professor
Nature-friendly farming boosts biodiversity and yields but may require new subsidies
Against the odds: Endometriosis linked to four times higher pregnancy rates than other causes of infertility, new study reveals
Microplastics discovered in human reproductive fluids, new study reveals
Family ties and firm performance: How cousin marriage traditions shape informal businesses in Africa
Novel flu vaccine adjuvant improves protection against influenza viruses, study finds
Manipulation of light at the nanoscale helps advance biosensing
New mechanism discovered in ovarian cancer peritoneal metastasis: YWHAB restriction drives stemness and chemoresistance
New study links blood metabolites and immune cells to increased risk of urolithiasis
[Press-News.org] Gene therapy restores immune function and extends lives of children with rare immune disorder9 children born with severe LAD-l are symptom-free two years after treatment