St. Jude researchers have cured babies with X-linked severe combined immunodeficiency (SCID-X1). Scientists hope the novel combination therapy will lead to cures for sickle cell disease and other blood disorders.
SCID-X1 is sometimes called “bubble boy” disease because patients are usually boys. They are born without good disease-fighting immune systems and need protection from the world. A mutation in a single gene stops people with SCID-X1 from making immune cells that work.
A team led by the late Brian Sorrentino, MD, of St. Jude designed a vector to carry a correct copy of the gene into blood-producing cells. The vector included safety features that protect against treatment-related side effects, including leukemia.
Patients also received low-dose chemotherapy to make room in their bone marrow for the gene-corrected cells.
The first eight SCID-X1 babies treated with the St. Jude gene therapy are all growing normally. They are now making complete sets of immune cells for the first time. None have developed serious infections.
“This treatment offers the first complete cure of babies with SCID-X1,” said Ewelina Mamcarz, MD, of St. Jude Bone Marrow Transplantation and Cellular Therapy. “We hope this combination therapy will be the template for curing other blood disorders.”
The New England Journal of Medicine published a report on this work.