NCT06851767
Base-Edited Hematopoietic Stem/Progenitor Cell X-Linked Severe Combined Immunodeficiency Gene Therapy
Enrolling by Invitation
PHASE1Ages 3–99InterventionalTreatmentNational Institute of Allergy and Infectious Diseases (NIAID)Government-funded
~18 participants
Updated 2026-06-01 on ClinicalTrials.gov
What's tested:PlerixaforFilgrastimPaliferminBusulfanBase-edited hematopoietic stem and progenitor cells
At a glance
Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Quantify frequency and severity of adverse events (AEs) related to study agent from infusion to 12 months after infusion.
Measured over 12 months
Conditions
Where it's being run
1 sites across 1 statesMaryland1
Study leadership
- Suk S De Ravin, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)
Who to contact
This trial hasn't published a contact. View it on ClinicalTrials.gov
Do you actually qualify for this trial?
Add a private profile and we'll compare every criterion below against your situation — and tell you which ones are met, uncertain, or excluding.
Eligibility criteria
Inclusion
Aged \>= 3 years and weigh \>=10 kg
Patients with X-SCID
If previously transplanted, must be \>=18 months post-HSCT
Expected survival of at least 120 days.
Ability to undergo apheresis for stem cell collection.
Patients with proven mutation in the common gamma chain gene as defined by direct sequencing of patient DNA. At this time, only patients with a IL2RG p.Q144X, IL2RG p.R289X, IL2RG p.Q235X and IL2RG p.R226H mutations can be treated.
Participants of reproductive potential must agree to consistently use highly effective contraception throughout study participation and for at least 2 years post-treatment.
For males: Condoms or other contraception with partner.
Documented to be negative for HIV infection by 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);
Must be willing to have blood and tissue samples stored IN ADDITION, patients must satisfy the following Laboratory Criteria AND Clinical Criteria
CD4+ lymphocytes: absolute number \<= 50% of the lower limit of normal (LLN)
CD4+CD45RA+ lymphocytes: absolute number \<= 50% of the LLN OR T-cell receptor excision circles (TRECs) \<= 5% of normal for age.
Memory B Cells: absolute number \<= 50% of LLN
Serum IgM\<normal for age
NK cells: absolute number \<= 50% of LLN
Lymphocyte proliferative response to each of 2 mitogens, phytohemagglutinin (PHA) and concanavalin A (ConA), is \<= 25% compared with a normal control.
Molecular spectratype analysis- absent or very oligoclonal (1-3 dominant peaks) in \>=6 of the 24 V(Beta) T-cell receptor families.
(fever \>=38.3 degrees Celsius (101 degrees Fahrenheit) or
neutrophilia or
pain/redness/swelling or
radiologic/ultrasound imaging evidence or
typical lesion or histology or
new severe diarrhea or
cough with sputum production.
Exclusion
Available HLA-matched sibling donors.
Known hypersensitivity to busulfan or any component of the product.
Contraindications for administration of busulfan.
Childhood malignancy (occurring before 18 years of age) in the participant or a first degree relative, or previously diagnosed known genotype of the participant conferring a predisposition to cancer unless approved by the Hematology consult team (no DNA or other testing for cancer predisposition genes will be performed as part of the screen for this protocol).
Any other condition that, in the opinion of the investigator, may compromise the safety or compliance of the participant, or would preclude the patient from successful study completion.
What this trial measures
- Quantify frequency and severity of adverse events (AEs) related to study agent from infusion to 12 months after infusion.12 months
Evaluate the safety of treatment with BE-HSPC IL2RG in participants with X-SCID.