Stem Cell Gene Therapy Cures ‘Bubble Baby’ Disease In 9 Infants

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Researchers at UCLA have developed an effective treatment for adenosine deaminase-deficient severe combined immunodeficiency

Bubble baby disease, also known as adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is a devastating disease which affects the immune system and blocks the ability to fight infection. Individuals with ADA-SCID are therefore left highly vulnerable to infection and are therefore isolated in sterile environment – which led to the name ‘bubble baby’. While there are some available treatments, such as bone marrow transplantation and an expensive injection of the adenosine deaminase enzyme they are deficient in, these are either dangerous, reliant on donors or do not completely correct the deficiency.  Now a phase 2 trial ran by a UCLA team and the National Institutes of Health has tested a novel solution which involves modifying the patient’s own blood stem cells to correct the missing enzyme. These cells are then transplanted back into the patient and are able to form functioning immune cells as a result. This trial ran from 2009 to 2012 and included 9 infants and 1 teenager.  The 9 infants appeared to be completely cured of their condition and are now able to live normal lives as a result. Unfortunately the teenager was not cured and therefore continues to receive enzyme replacement therapy. The scientists suggest that these types of solutions are therefore much more likely to be successful in younger individuals, when the immune system is more readily restored. Older patients may require a more robust and comprehensive strategy. Given the striking success of the therapy however, the researchers hope to move to FDA approval of the therapy.  Read more at MedicalXpress