Will gene therapy or stem cell transplant save our child’s life?

Gene therapy is not yet available outside the confines of a very small, preliminary clinical trial in France. Stem cell transplantation, either using umbilical cord blood stem cells or bone marrow stem cells from a matched donor, has been used successfully to arrest the progress of ALD in some boys with the disease. The treatment has serious risks of its own. Because the body’s immune system must essentially be shut down by high-dose chemotherapy and/or radiation to prevent rejection of the “foreign” transplanted cells, the child is at risk from even the smallest cold or other infection. Statistics show that the mortality rate after such transplants can be as high as 40%. The disease also can progress for six to eighteen months post transplant—meaning that the child will lose some additional brain function before improving, even if the transplant is successful.

However, for boys who are candidates for a transplant, it is currently the only option to halt the disease’s destruction of brain cells. Transplantation must be considered very carefully; there are no easy answers.