TWELVE-YEAR-OLD MARLEY GASKINS was born with a one-in-amillion genetic disorder called leukocyte adhesion deficiency-1, or LAD-1, which cripples the immune system and results in recurring infections, coupled with slow wound healing. “She started getting what looked like ant bites on her skin when she turned 1,” says Marley’s mother, Tamara Hogue. “When she was 3, she got a really big skin abscess on her stomach that landed her in the hospital for five weeks.” Eventually, Marley needed round-the-clock attention for the infections.
Due to a defective gene, the child was missing a protein that enables white blood cells to stick to the walls of blood vessels — a crucial step these cells take before moving outside the vessel walls and into tissues to fight infections. Most children with Marley’s disorder, if untreated, die before the age of 2.
Doctors in her home state of Florida said the only possible cure would be a bone-marrow transplant from a matched donor. Tamara said Marley’s doctors couldn’t even provide a survival rate for LAD-1 patients who undergo transplantation because so few people are diagnosed with the disorder.
The mother’s search for other treatment options led her to Donald Kohn, MD, Distinguished Professor of Microbiology, Immunology & Molecular Genetics, Pediatrics and Molecular & Medical Pharmacology, and director of the UCLA Human Gene and Cell Therapy Program. He was leading a new clinical trial for children with LAD-1 in which doctors collect bloodforming stem cells with the defective gene from the child, add in a healthy copy of the gene in the lab and then return the corrected cells to the child’s body.
The therapy works by prompting the child’s body to create a continuous supply of healthy white blood cel ls capable of fighting infection. Because the corrected cells are the patient’s own, there is no risk of rejection, making the treatment less risky than a bone-marrow transplant. Marley became the first LAD-1 patient ever to receive the stem-cell gene therapy. “One month after, she was already feeling pretty well and her immune system was working great,” says Dr. Kohn, who is a member of the Eli and Edythe Broad Center of Regenerat ive Medicine and Stem Cell Research at UCLA and the Jonsson Comprehensive Cancer Center.
Dr. Kohn recently reported at a meeting of the American Society of Hematology that Marley and five other children who received the gene therapy at UCLA remain healthy and disease - free. Doctors expect that the one-time therapy will keep LAD-1 patients healthy for life.
More than two years out of treatment, Marley is experiencing a lot of firsts: first time camping, first time getting her ears pierced and first time going to what she calls “big school” this year. “She tells me that she’s thankful she has a story that makes her unique,” Tamara says. “Now she shares her journey with kids at school to give others courage and hope.”
— Linda Wang