ADA-SCID was the condition treated in the first approved human gene-therapy trial in 1990.
ADA-SCID stands for adenosine deaminase deficiency severe combined immunodeficiency. The inherited disorder prevents the immune system from developing normally, leaving affected children highly vulnerable to infections. It is sometimes associated with the popular phrase “bubble boy disease,” although that label is not medically precise for every case.
The trial took place at the U.S. National Institutes of Health in September 1990. Doctors removed some of the patient’s white blood cells, inserted a working copy of the ADA gene using a retroviral vector, and returned the modified cells to her body. The treatment was developed by a team including W. French Anderson, Michael Blaese, and Kenneth Culver.
The therapy did not immediately cure every aspect of the disorder, and later patients also received enzyme-replacement treatment. Nevertheless, the trial established that genetic material could be deliberately introduced into human cells as a medical treatment.