A New Treatment Option for "Bubble Boy" Disease

A recent article published in Science Codex shared the findings of UCLA stem cell researchers who may have found a way to treat “Bubble Boy” disease.  “Bubble Boy” disease or ADA-deficient severe combined immunodeficiency (SCID) is an inherited genetic condition which became famous with the case of David Vetter in the 1970s.  ADA refers to the gene which produces the enzyme responsible for making white blood cells.  Lacking an immune system at birth, Vetter was placed inside a plastic bubble called the isolator.  Doctors hoped that a bone marrow transplant from his sister would provide Vetter with a working immune system, but he died after a failed operation at age 12.  Fortunately, children with ADA-SCID have a much higher rate of survival today, and UCLA researchers have found a way to restore immune systems using stem cells.

[caption id="" align="aligncenter" width="320" caption="David Vetter inside the isolator."][/caption]

The study at UCLA lasted for 11 years, and researchers applied two types of therapies on children with ADA-SCID.  The first type of therapy used was gene therapy.  Gene therapy works by replacing a nonfunctional gene with a functional one or by repairing a mutation that occurs.  Typically, gene therapy is administered to the patient via a virus.  The researchers tested the effectiveness of delivering a much needed enzyme to children with ADA-SCID using two types of viruses.  The delivery method was effective, and the enzyme helped the child produce white blood cells which are necessary for building a strong immune system.  The second type of therapy used was chemotherapy which killed bone marrow cells that were not producing white blood cells.  This approach to treating ADA-SCID appears to be promising.  One of the original participants was a 10 month old baby at the start of the study in 2008.  Today, the child is 5 years old, and his immune system is functioning properly.

The effects of this research show the importance of gene therapy in treating inherited diseases.  Thirty years ago, ADA-SCID was fatal, but through the efforts of researchers, people with this condition are able to live long and heathy lives.  Hopefully the techniques and findings from this study will aid other researchers in finding cures for other inherited diseases.