Health Editor’s Note: We all remember the original “bubble boy,” David Vetter who was born in 1971, in Texas, with severe combined immunodeficiency (SCID) which left him with no ability to develop antibodies, in other words, no immune system. David continued with no ability to develop his own immune system as he matured. He was placed into a sterile plastic bubble and lived there for 12 years, until his death.
What is SCID? SCID is a life threatening disease that is present at birth. In some families SCID is inherited and affects males because it affects the X chromosome, of which a male has only one. Inherited is the most common type of SCID. Sometimes SCID is not inherited and the baby who has it will be the first one in the family to have the disease.
Treatment for SCID has been isolation, then stem cell transplants were developed and these have an 80% chance of producing a healthy, normal life for a child. With no treatment infants will die in early childhood. Now there is a gene therapy to grow an immune system….Carol
Gene Therapy Cures ‘Bubble-Boy Disease’
Early trial in SCID infants showed full immune restoration
By Crystal Phend, Senior Associate Editor, MedPage Today
A novel gene therapy generated a functional immune system with all three types of lymphocytes for infants with newly-diagnosed X-linked severe combined immunodeficiency (SCID-X1, or XSCID), a phase I/II trial showed.
Among eight infants treated, seven had normalization of the number of CD3+, CD4+, and naive CD4+ T cells and natural killer (NK) cells by 3 to 4 months after infusion along with reconstitution of B cells, myeloid cells, and bone marrow progenitors corrected by the gene-therapy vector, delivered as an autologous bone marrow transplant.
One infant had little response initially but a second dose of gene-corrected bone marrow stem cells (given without chemotherapy preconditioning) normalized T cell levels and, like the other recipients, cleared preexisting infections and is growing normally, Ewelina Mamcarz, MD, of St. Jude Children’s Research Hospital in Memphis, Tennessee, and colleagues reported in the New England Journal of Medicine.