SAN FRANCISCO, Calif. (Ivanhoe Newswire) — For years, doctors have been searching for a better way to treat children born without an immune system. The standard treatment, bone marrow transplant, comes with risk of serious infection. But researchers are testing a new treatment that could be a game changer.
This marks a milestone for 8 month old Ja’Ceon Golden.
Ja’Ceon was born with severe combined immunodeficiency; also known as the bubble boy disease. Without a functioning immune system, even a cold could be deadly.
Fortunately, Ja’Ceon found the help he needed at the University of California, San Francisco Benioff Children’s Hospital. Isolation bubbles were long gone. There were two options: a bone marrow transplant, or an experimental gene therapy treatment study which could lower the risk of infection.
“There’s a possibility he could help himself plus other kids then I was all for trying,” Dannie Hawkins, Ja’Ceon’s Aunt told Ivanhoe.
The groundbreaking effort to grow a new immune system for Ja’Ceon took a team effort between UCSF and St. Jude’s Hospital in Memphis.
“We took maybe five to ten percent of his bone marrow and we isolated the stem cells,” Morton Cowan, MD, Professor of Pediatrics at UCSF Benioff Children’s Hospital explained. (Read Full Interview)
The cells were sent to St. Jude’s where researchers corrected the cells, froze them, and sent them back. But before Ja’Ceon could receive the cells, he needed chemotherapy to make sure there would enough room in his bone marrow for them to grow.
Dr. Cowan continued, “He got the chemotherapy over two days and on the third day we infused the cells.”
Today, Ja’Ceon can stroll down streets like anyone else.
“He’s just looking around like what is this and who are these people? That’s why I took it ‘cause he’s just never been out in the free world,” Hawkins stated.
It’s still early in the trial, but doctors say Ja’Ceon’s prognosis is very promising. The trial will treat at least 15 children at UCSF over the next five years that have the same x-linked version of the disease as Ja’Ceon. SCID develops in about one in every 60 thousand newborn in the U.S. of which about 25 percent have this x-linked form of the disease.
Contributors to this news report include: Jennifer Winter, Field Producer; Evan Borders, Videographer; Cyndy McGrath, Supervising Producer; Gabriella Battistiol, Assistant Producer; Roque Correa, Editor.
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TOPIC: LIFE OUTSIDE THE BUBBLE: JA’CEON’S STORY
REPORT: MB #4304
BACKGROUND: Severe Combined Immune Deficiency or SCID, is a potentially fatal primary immunodeficiency that occurs when there is a combined absence of T-lymphocyte and B-lymphocyte function. There are at least 13 different genetic defects that can cause SCID, and these defects can lead to extreme susceptibility all the way to very serious infections. This is a condition generally considered to be the most serious of the primary immunodeficiencies. Early identification of SCID can make life-saving intervention possible before infection occurs. Many states currently have SCID added to their newborn screening panel. David Vetter, affectionately known as the boy in the bubble, was born with SCID in 1971. He captured the world’s attention as he lived in protected environments to maintain relatively germ-free surroundings. This disease, as a result, is better known as the bubble boy syndrome.
SYMPTOMS/TREATMENT: In addition to frequent and sometimes very severe respiratory infections, other symptoms of SCID in infants may include rashes that look like eczema, poor growth, recurrent thrush in the mouth, or chronic diarrhea. Often SCID is associated with recurrent viral infections which cause several hospitalizations before it is discovered. One unusual infection used as a red flag for the need to evaluate a patient for SCID is pneumocystis pneumonia. The only cure currently and routinely available for SCID is a bone marrow transplant, which provides a new immune system to the patient.
NEW TECHNOLOGY: Ja’Ceon’s specific defect is in the gene referred to as Gamma C. It’s the only type of SCID inherited from mothers to sons, affecting only the males in the family. This new gene therapy technology isolates a normal, healthy Gamma C gene. Then, researchers insert the gene using a viral vector into the DNA of the patient’s bone marrow stem cells. The process involves taking samples of bone marrow from the patient, about 5 to 10 percent in Ja’Ceon’s case. The stem cells from the bone marrow are isolated and treated, then frozen for storage purposes. The patient is treated with a specific dose of chemotherapy drug aimed to open up some space in the bone marrow to make way for the healthy, treated gene. The cells are then infused intravenously through his catheter, treating the patient and helping with B-cell and T-cell function. Finally, the patient can be given supplements and eventually given immunizations just like any other child. This clinical trial is being supported by the California Institute of Regenerative Medicine (CIRM).
(Source: Morton J. Cowan, MD)
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