Gene Therapy Restores⁤ Immune function in Children with Rare Disorder

LOS ANGELES (AP) — An⁤ international⁤ clinical trial, co-led by ‍the University of ⁢California, Los Angeles (UCLA), ⁤reports prosperous restoration of immune function in nine children treated for severe leukocyte adhesion deficiency-I (LAD-I), a rare and potentially ‍deadly ⁤immune disorder.

The findings, published in⁣ the New England Journal of Medicine, detail two-year outcomes for nine patients, ages 5 months⁢ to 9 years.The patients received⁢ the experimental therapy at clinical trial ‍centers ⁢including Mattel ⁢Children’s Hospital UCLA, Great Ormond Street Hospital (GOSH) in London, and⁤ Hospital Infantil Universitario Niño jesús in Madrid. Dr. Donald Kohn, principal author of the study, along ⁣with co-authors Dr. Claire Booth, director of the London trial center, and Dr. Julian Sevilla, director of the Madrid trial center, presented ⁤the data.

Understanding LAD-I

LAD-I,a genetic⁣ disease affecting approximately 1 ⁢in ⁢1⁣ million people worldwide,stems from mutations⁣ in the gene responsible for producing CD18. This protein is crucial for enabling white ⁤blood cells to migrate from the bloodstream to sites of infection. Individuals with severe LAD-I, often diagnosed in infancy,‍ are highly⁣ susceptible to ⁢recurrent and life-threatening bacterial ⁣and fungal infections. Without treatment, survival beyond childhood⁣ is uncommon.

Positive Outcomes

All nine children in the trial responded positively to the gene therapy, exhibiting no symptoms of LAD-I. Skin lesions and severe gum inflammation, characteristic of the disease, resolved, and the children are now able to effectively combat⁢ infections, ‍similar to individuals with healthy immune systems.

“These children are no longer‍ defined‍ by their diagnosis,” said Kohn, a ‍professor of microbiology, immunology,⁣ and molecular genetics at UCLA, and a member of the‍ Eli and⁢ Edythe ⁢Broad Center of Regenerative ‍Medicine‍ and Stem Cell Research. “Seeing them healthy and thriving without serious infections or ⁢frequent hospital visits demonstrates the durable benefits of ‍this therapy.”

The‍ Risks ⁤of Customary Transplants

The standard treatment for LAD-I is a ‍bone marrow transplant from a compatible donor. However, ⁣even with a matched donor, bone ⁢marrow transplants carry important risks, including graft-versus-host disease, a⁤ condition ⁤where the donor cells attack the recipient’s body.

Gene Therapy: A New Approach

The experimental gene therapy, developed by Rocket Pharmaceuticals, Inc., ‍genetically modifies the ⁢patient’s own blood cells.This approach allows patients to ⁤become ⁣their own stem cell donors, potentially mitigating many of the risks associated with traditional bone marrow transplants. The process involves collecting the patient’s blood cells and modifying them ‍using a lentiviral vector. This modified virus ⁣safely introduces a functional copy⁣ of the CD18-encoding gene into the cells. The corrected cells are then infused back into the patient, producing healthy immune‍ cells capable of fighting infections.

Key Findings

Kohn⁢ and his team reported that all⁣ patients achieved adequate levels of the CD18 protein, normalized white blood cell counts, and a significant decrease in serious⁣ infections requiring hospitalization. Furthermore, no serious adverse ⁣events related to the gene therapy were observed, and all patients remained free ⁢of graft failures or adverse immune reactions.