Gene Therapy for Children With Rare ‘Bubble Boy Disease’ Proves Effective After Long-Term Follow-Up

The 62 children who were found to have the rare “Bubble Boy disease” as babies and toddlers between 2012 and 2017 still seem cured after long-term follow-up, after being treated with a genetic therapy for severe combined immunodeficiency.

The results of the trial noted that by 2019, 95 percent of the children, which equates to all but two of the young patients, showed complete immune system reconstruction. And now, years later, long-term follow-up results show that the therapy is still 95 percent effective.

Treatment for Children With Rare “Bubble Boy Disease”

In a statement, a pediatric transplant physician at the University of California, Los Angeles, Donald Kohn, MD, said that the durability of immune function, the consistency over time, and the continued safety profile among the children were all encouraging.

Severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID) is typically caused by mutations in an individual’s ADA gene. This gene is responsible for creating an enzyme that is essential for a person’s immune function, according to Good News Network.

For kids who have this rare condition, typical daily activities, such as going to school or playing with friends, can result in dangerous, life-threatening infections. If left untreated, ADA-SCID can even be fatal within an infant’s first two years of life.

SCID suddenly became well-known in America in 1984 because of “the boy in the bubble,” David Vetter. He received a special spacesuit from NASA that allowed him to leave his total medical isolation and see the world. However, despite this suit, the boy passed away due to an infection when he was 12 years old.

The researchers who led the multi-center program related to the cured children said that the persistence of healthy immune systems and results of long-term follow-up should be taken as signs that the approach could become a standard treatment for individuals with ADA-SCID, Science Media Centre reported.

An Effective Approach

The families whose lives were previously defined by the strict isolation of affected individuals are now able to describe ordinary childhood milestones that they would never have dreamed were possible.

The gene therapy in question is a treatment that was tested by researchers at UCLA in collaboration with institutions in the United Kingdom. It takes a personalized, cell-based approach to correct an individual’s genetic defect.

The first step in the process is doctors collecting a child’s hematopoietic stem cells from their bone marrow or blood. Then, a laboratory team uses a modified viral vector to deliver a healthy copy of the ADA gene into those stem cells. Finally, those corrected stem cells are returned to the patient, where they then engraft and produce a continual supply of functional immune cells, as per the Valley Vanguard Online.

Originally published on parentherald.com