Doctors cure bubble boy disease with gene therapy

OAN Press Room
UPDATE FROM 11.30 AM – Thursday 18 April 2019

The "bubble boy" label was first used to describe the young Texan David Vetter, born without a functioning immune system. Vetter was unusually susceptible to infections and spent most of his life in a bubble.

"It results from defects in a gene called IL2RG, essential to normal lymphocyte immune function," said Dr. Ewelina Mamcarz, pediatric hematologist and oncologist at St. Jude's Children's Hospital.

According to doctors, a simple infection like a cold could be fatal.

In this April 2019 photo provided by St. Jude Children's Research Hospital, Dr. Ewelina Mamcarz poses for a portrait at the Memphis Hospital. A study published Wednesday, April 17, 2019 explains how scientists have turned HIV into a savior, altering it so that it can no longer cause disease, and then using it to transmit a gene to eight babies with no "disease" of Bubble Boy ". "This therapy has cured patients," but it will take longer to see if it is a permanent solution, said Mamcarz, one of the study's leaders. (Peter Barta / St Jude Children's Research Hospital via AP)

Vetter died as a result of a bone marrow transplant at the age of 12 years. At the time of his death in 1984, the transplant was his only chance of survival outside the plastic cocoon.

35 years later, a medical breakthrough at St. Jude's Children's Hospital gives "bubble boys" around the world the chance to lead a less restrained life. This assumes that they survive the first year.

"If left untreated, they develop life-threatening infections, very serious infections, and most of them die in the first year of life," said Dr. Mamcarz. "It is therefore very important that this disease be treated as soon as babies are diagnosed."

A study published Wednesday reports the success of a trial using gene therapy, which was developed in Memphis, Tennessee by the late Dr. Brian Sorrentino. In an interview recorded before his death in 2018, Sorrentino explained the revolutionary process.

"We are replacing the defective gene at the origin of this disease, X-SKID, and we are doing this by taking bone marrow cells into the operating room and inserting a normal copy of that." gene with the help of a device called a deactivated virus vector, "he explained.

The cells are returned intravenously, but before that, a drug is administered to the patient to destroy part of his bone marrow to allow the new cells to grow. The eight test infants have all developed a healthy immune system in a few months.

Doctors hope to use this treatment for other disorders such as "sickle cell disease".

This April 2019 photo provided by the St. Jude Children's Research Hospital shows Gael Jesus Pino Alva, 2, at the Memphis Hospital. Gael was one of eight babies with the "bubble boy's disease" who corrected him with gene therapy that was ironically made from one of the worst enemies of the immune system, HIV, virus that causes AIDS. (Peter Barta / St Jude Children's Research Hospital via AP)