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.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Phase 1/2
Runs two stages together: safety and dose first, then whether the treatment works.
- Participants
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About 28 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Aug 2016
- Expected to finish
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Aug 2034
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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Up to 24 months
- Sex
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Male participants only
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: \* Treatment Eligibility Criteria: * Age \<2 years at the time of enrollment. * No prior therapy with allogeneic stem cell transplantation. * A clinical diagnosis of SCID-X1 documented in the medical record. * A proven mutation in the common gamma chain gene as defined by direct sequencing of patient DNA. * Age \> 2 months to \< 1 year of age at the time of busulfan administration. * Less than 300 CD3+ T-cells by flow cytometry or higher if evidence of maternal engraftment as supported by peripheral blood FISH analysis for XY and XX. * Lymphocyte proliferation to phytohemagglutinin (PHA) \<10% of the lower limit of normal for the laboratory. Treatment Exclusion Criteria: * Availability of a HLA matched sibling for allogeneic transplantation * Prior therapy with allogeneic stem cell transplantation * Positive for HIV infection by genome PCR * Presence of a medical condition indicating that survival will be less than 16 weeks such as the requirement for mechanical ventilation, severe failure of a major organ system, or evidence of a serious, progressive infection that is refractory to medical therapy. * The presence of any medical contraindications to general anesthesia and bone marrow harvest by aspiration * A social situation indicating that the family may not be able to comply with protocol procedures and recommended medical care.
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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.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
3 sites. The list below names each one and where it is.
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The official record
The full official record for this study. This one lists no contact details, but it is the first place any would appear.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
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