Severe Combined Immunodeficiency (SCID) is a rare illness affecting an estimated 1 in 100,000 infants. It is a fatal condition caused by “mutations in different genes involved in the development and function of infection-fighting immune cells.” Researchers led by a team out of St. Jude’s Medical Center in Memphis, Tennessee, have announced that they have been employing a new experimental gene therapy that has shown amazing results, so much so that they are calling it a “cure.”
“It’s a game changer,” said Jennifer Hemall, a pediatric immunologist at Children’s Hospital of Philadelphia, who was not involved in the study. “For immunologists following this disease, gene therapy has always been out there as the hope of the future. It’s exciting to see this wave of treatments actually becoming a reality.”
While an infant with SCID may seem healthy, they are vulnerable to severe infections, resulting in death within the first two years of life if the disorder goes untreated. The disease became widely known through a young boy named David Vetter, who lived his entire life inside of a bubble to protect him from outside pathogens and became known as “Bubble Boy.” Since then, treatments for infants with SCID have developed, frequently including bone marrow transplants that try to kickstart the child’s immune system. And while these treatments have broadened the lifespan for people with the disease and allowed a lot of those children to grow up, many of those kids must rely on continuing therapies while hoping that the new immune system they are developing won’t attack their own body.
There are a few kinds of SCID, and there has been some success treating some forms of the immune disease with gene therapy, but researchers have had less success with the most prevalent form, XSCID, until now.
Stem cells are taken from the patient and, using a virus, are reintroduced with correctly functioning genes back into the infant. Dr. Stephen Gottschalk, who authored the study, told CNN "This virus is able to effectively deliver the healthy copy of the gene into the stem cells in a way that was not possible before. We believe that this type of virus is safer and more effective for gene therapy.”
So far, researchers have cured 10 patients and followed them for up to two years. The children have had no side effects, and no issues related to their SCID. An important move forward here was the researchers’ ability to greatly lessen the chances the patient would develop cancer, a problem found with earlier gene therapy techniques.
The Washington Post reports that the announcement was “bittersweet” for researchers as their senior author and leader, Brian Sorrentino, recently passed away.
Sorrentino was diagnosed at a young age with Hodgkin’s lymphoma, said his widow, Suzanne Sorrentino. Because modern treatments did not yet exist, his doctors treated him using radiation that weakened his heart and produced the lung cancerthat killed him last November.
Suzanne Sorrentino told the Post that her husband knew the work was a success, and had always believed he had survived his childhood cancer because he was meant to do something for others in this life, “With the trial working, and the children doing so well, he felt it was a sign that he achieved what he was supposed to. That it was time for him to go.”
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