Gene therapy offers hope for boys with severe immune disorder
NCT ID NCT01410019
First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This trial tested a gene therapy for X-linked severe combined immunodeficiency (SCID-X1), a life-threatening condition where boys are born without a working immune system. Five boys who had no matching bone marrow donor received a single infusion of their own blood stem cells that were genetically corrected in a lab. The goal was to restore their immune defenses and help them fight infections normally.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- autologous CD34+ cells modified with a self-inactivating gammaretroviral vector carrying the IL2RG gene
- What this could lead to
- If successful, this could provide a one-time treatment option for boys with SCID-X1 who lack a suitable bone marrow donor, potentially restoring their immune system.
- What could go wrong
- This is an early-phase trial with only 5 participants, so results may not apply to all patients. Gene therapy carries risks such as insertional mutagenesis or incomplete 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
-
Phase 1/2
Runs two stages together: safety and dose first, then whether the treatment works.
- Participants
-
5 people
The number who actually took part.
- Start date
-
Dec 2010
- Finished
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Jun 2015
- Lead sponsor
-
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
-
Up to 12 months
- Sex
-
Male participants only
- Healthy volunteers
-
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 : * Boys diagnosed during the first year of life * Diagnosis of classical SCID-X1 based on immunophenotype (absent, or reduced numbers of non-functional T lymphocytes) and confirmed by DNA sequencing * No HLA identical family donor and no HLA identical unrelated donor (10/10 antigens) found in the 6 weeks following the beginning of the search. This period could be shortened if the probability to find a donor is low or if the clinical situation (gravity) required * Presence of a severe infection: pneumonitis and / or chronic diarrhea, or infection with herpes viruses or parainfluenza type 3 or adenovirus, or disseminated BCG infection, or presence of severe diarrhea and a severe compromise of the general state with denutrition * Or failure of a HLA HAPLO-identical bone marrow transplant within 10 years after transplantation * In all cases: * No family background of cancer in childhood. * No cytogenetic abnormalities (medullary karyotype) and no detection of main rearrangements associated with acute leukemia of children * Parental/guardian voluntary consent Exclusion criteria : * Atypical health with autologous T\> 500/ml3 * Infection by HIV 1 or 2 * Allogeneic HSC completed (excluding situations of failure) * Existence of an HLA identical family donor or HLA identical unrelated donor * No severe infections in a child with a preserved general state * Family background of cancer in childhood * Detection of cytogenetic abnormality and / or rearrangement associated with acute leukemia of children * No affiliation to a social security scheme (beneficiary or assignee)
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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
-
Hopital Necker
Paris, 75015, France
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Other studies related to the condition(s) this trial covers.