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Gene Therapy for X-Linked Severe Combined Immunodeficiency (XSCID)

This study is testing a gene therapy for children and adults with X-linked Severe Combined Immunodeficiency (XSCID), also known as SCID-X1. This condition causes a severe weakening of the immune system. The therapy involves taking your own blood stem cells, modifying them in a lab with a lentivirus vector (VSV-G pseudotyped CL20- 4i-EF1alpha-hgammac-OPT vector) to correct the genetic defect, and then giving them back to you intravenously. Before receiving the modified cells, you will be given busulfan, a drug to prepare your bone marrow, and palifermin, a drug to prevent mouth sores. The study aims to see if this treatment leads to the appearance and growth of healthy immune cells (T-lymphocytes) and improves your immune function. You may be eligible if you are between 2 and 50 years old, male, and have a confirmed mutation in the common gamma chain gene, and do not have a matched sibling donor for a bone marrow transplant. The study plans to enroll 40 participants, but its current status is unclear.

Study design
This is a non-randomized clinical trial, meaning all participants receive the study treatment. It aims to enroll 40 participants.
What's involved
Your own blood stem cells will be collected. You will receive busulfan and palifermin, followed by an intravenous infusion of your modified cells.
Compensation
Not stated in the trial record.
Follow-up
Early signs of success will be measured at 1 year after the treatment.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT01306019

Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)

Recruiting
PHASE1Ages 2–50InterventionalTreatment
National Institute of Allergy and Infectious Diseases (NIAID)
~40 participants
Updated 2026-09-08 on ClinicalTrials.gov
What's tested:Ex vivo culture and transduction of the patient's autologous CD34+ HSC with lentivirus vector VSV-G pseudotyped CL20- 4i-EF1alpha-hgammac-OPT vectorBusulfanPalifermin

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Early evidence for efficacy will be defined by appearance and expansion in the circulation of autologous transduced T-lymphocytes with functional gmama-c and improved laboratory measures of immune function in the interim evaluation of these para...
Measured over 1 year

Conditions

X-linked Severe Combined Immunodeficiency (XSCID)

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Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • National Institutes of Health Clinical Center

    Bethesda, Marylandstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Suk S De Ravin, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)

Who to contact

Suk S De Ravin, M.D.
[email protected]
(301) 496-6772
Email the study team

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Eligibility criteria

Inclusion

A proven mutation in the common gamma chain gene as defined by direct sequencing of patient DNA
No available HLA matched sibling donor as determined before enrollment. (HLA typing will be performed prior to enrollment)
Must be between 2 and 50 years of age and weigh greater than or equal to 10 kg
If previously transplanted, must be greater than or equal to 18 months post HSCT
Expected survival of at least 120 days.
Participants of reproductive potential must agree to consistently use highly effective contraception throughout study participation and for at least 2 years post-treatment. Acceptable forms of contraception are:
For males: Condoms or other contraception with partner.
Documented to be negative for HIV infection by genome PCR
The patient must be judged by the primary evaluating physician to have a suitable family and social situation consistent with ability to comply with protocol procedures and the long-term follow-up requirements.
Medical lab data (historical) of severe B cell dysfunction (low or absent IgG levels, failed immune response to vaccines); OR demonstrated requirement for intravenous gamma globulin (IVIG) (significant drop over 3 to 6 weeks between peak and trough IgG levels).
Must be willing to have blood and tissue samples stored IN ADDITION, patients must satisfy the following Laboratory Criteria AND Clinical Criteria

Exclusion

Any current or pre-existing hematologic malignancy
Documented HIV-1 infection
Documented active Hepatitis B infection
Childhood malignancy (occurring before 18 years of age) in the patient or a first degree relative, or previously diagnosed known genotype of the subject conferring a predisposition to cancer (no DNA or other testing for cancer predisposition genes will be performed as part of the screen for this protocol)

What this trial measures

  • Early evidence for efficacy will be defined by appearance and expansion in the circulation of autologous transduced T-lymphocytes with functional gmama-c and improved laboratory measures of immune function in the interim evaluation of these para...1 year

    successful, partial successful or failure