Gene therapy trial aims to fix 'Bubble Boy' disease in newborns
NCT ID NCT01512888
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study tests a gene therapy for infants with X-linked severe combined immunodeficiency (SCID-X1), a life-threatening condition where babies lack a working immune system. Researchers take the baby's own bone marrow stem cells, add a normal copy of the faulty gene using a lentiviral vector, and infuse the cells back after a mild chemotherapy. The goal is to see if this approach is safe and can restore immune function, offering an alternative to stem cell transplants from a donor.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- Active substance
- lentiviral gene therapy (self-inactivating lentiviral vector with normal common gamma chain gene)
- What this could lead to
- If successful, this gene therapy could provide a new treatment option for infants with SCID-X1 who lack a suitable stem cell donor, potentially restoring their immune system without lifelong medication.
- What could go wrong
- This is an early-phase trial (Phase 1/2) with only 28 participants, so results may not apply broadly. There are risks from the chemotherapy (busulfan) used before gene transfer, and the therapy may fail to produce lasting immune recovery.
This is an AI summary of the original study and may miss details. Read our disclaimer.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Seattle Children's Research Institute
Seattle, Washington, 98101, United States
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St. Jude Children's Research Hospital
Memphis, Tennessee, 38105, United States
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University of California-San Francisco
San Francisco, California, 94158, United States