Gene Therapy for XSCID (SJ-16-0006)

St. Jude Reference #SJ-16-0006


Adolescents and young adults with a severe inherited immunodeficiency disorder improved following treatment with novel gene therapy developed at St. Jude Children’s Research Hospital and at the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health.

The study involved five males with X-linked severe combined immunodeficiency disease (SCID-X1 or ‘XSCID’), also known as “bubble boy” disease. This inherited disorder involves a mutation in the IL2RG gene that affects males and occurs in 1 of every 50,000 to 100,000 live births, leaving them with little to no immune protection, and patients typically only live two years.

The vector, a re-engineered lentivirus that is used to deliver a correct copy of the mutant gene to the blood-producing stem cells of patients, was developed and produced at St. Jude; and is combined with busulfan conditioning therapy to rebuild the immune system and lead to broad immunity.

Press release: Gene therapy pioneered at St. Jude shows early success against bubble boy disease

Results showed that the patients’ chronic viral infections resolved, they put on weight as their protein absorption improved, they ended life-long immune globulin therapy; though one patient died from pre-existing lung damage more than two years after receiving gene therapy, highlighting the importance of earlier intervention before irreversible organ damage occurs. 

Also, promising levels of the normal gene were reported in the three other study patients six to nine months after gene therapy, and the safety results were reassuring. There was also no indication of possible pre-cancer cell proliferation, and St. Jude has opened a gene therapy trial using the same lentiviral vector and busulfan conditioning for newly identified infants with SCID-X1 who lack a genetically matched sibling hematopoietic stem cell donor. 



Gene therapy, XSCID, bubble boy, transplant, lentiviral


Granted Patents or Published Applications


Related Scientific References

Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency. Sci Transl Med. Epub ahead of print: April 20, 2016. Doi: 10.1126/scitranslmed.aad8856


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