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Allogeneic Hematopoietic Stem Cell Transplant for Inborn Errors of Immunity

This study is investigating if a stem cell transplant can successfully treat people with certain immune system diseases (inborn errors of immunity). You might be eligible if you are between 4 and 69 years old, weigh at least 12 kilograms, and have a diagnosed genetic immune disorder that hasn't responded to standard treatments, or for which no standard treatments exist. The study uses several interventions, including Busulfan, Fludarabine, and sometimes Alemtuzumab or Total Body Irradiation, to prepare your body for the transplant. The main goal is to see if the transplanted cells successfully grow and become part of your immune system (sustained donor engraftment) within 100 days after the transplant. The current status of this study is unclear, and it aims to enroll 66 participants.

Study design
This is an interventional study, meaning participants will receive specific treatments. It plans to enroll 66 participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
The primary outcome, sustained donor engraftment, is measured up to 100 days after the transplant.

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

NCT04339777

Allogeneic Hematopoietic Stem Cell Transplant for Patients With Inborn Errors of Immunity

Recruiting
PHASE2Ages 4–69InterventionalTreatment
National Cancer Institute (NCI)
~66 participants
Updated 2026-08-19 on ClinicalTrials.gov
What's tested:Busulfan test doseFludarabineBusulfanAlemtuzumabTotal body IrradiationAllogeneic HSCT

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Sustained donor engraftment
Measured over baseline to day +100

Conditions

Lymphoproliferative Disorders
Autoimmune Lymphoproliferative
Immune System Diseases
Common Variable Immunodeficiency
Primary T-cell Immunodeficiency Disorders

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Inherited Immunodeficiency DiseasesPrimary Immune Regulatory DisorderIDE Gene

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Sung-Yun Pai, M.D. · PRINCIPAL_INVESTIGATOR · National Cancer Institute (NCI)

Who to contact

Shannon L Knight, R.N.
[email protected]
(240) 921-5872
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Age \>= 4 years and \<=69 yo with Weight \>=12 kilograms
Mutation in a known monogenic (IEI) gene performed by a CLIA certified laboratory, who have failed standard medical management, or when no standard medical management is available.
Availability of an 8/8, 7/8, or 6/8 HLA-matched related or unrelated donor (if the mismatch is at DQ this will be considered an 8/8 matched donor), or a haploidentical related donor. Karnofsky or Lansky performance status of \>= 40%
Adequate end-organ function, as measured by:
Left ventricular ejection fraction \> 40%, preferably by 2-D echocardiogram (ECHO) obtained within 60 days prior to enrollment.
Creatinine: Adult patients: \<= 2.0 mg/dl and creatinine clearance \>= 30 ml/min; Pediatric patients (\<18 years old): creatinine \< 1.5 mg/dL and a creatinine clearance, using the Schwartz Formula \> 30 mL/min/1.73m\^2.
Serum conjugated bilirubin \< 2.5 mg/dl; serum ALT and AST \<= 5 times upper
Pulmonary function tests: FEV1 \> 30% and DLCO \>30%. Children who are unable to have DLCO assessed due to age, are still eligible if no evidence of dyspnea at rest and no need for supplemental oxygen.
Ability of subject or parent/guardian to understand and the willingness to sign a written informed consent document. For subjects \<18 years old, their legal guardian must give informed consent. Pediatric patients will provide assent.
As therapeutic agents used in this trial may be harmful to a fetus, women of childbearing potential and men must agree to use adequate contraception (hormonal or barrier method of birth control; abstinence) prior to study entry and for at least one year post-allo HCT. Should a woman become pregnant or suspect she is pregnant while she or her partner is participating in the study, she should inform her treating physician immediately.
Willingness to remain in the NIH hospital or, if discharged, stay close to the NIH, for a minimum of 100 days after transplant or longer, if there are complications. If outpatient in the first 100 days after transplant, patient must commit to having an adult caregiver with them at all times.

Exclusion

Patients who are receiving any other investigational agents (with the exception of virus-specific therapy e.g. cytotoxic T-cells for the treatment of viral infection/reactivation prior to allo HCT).
Patients with known brain metastases should be excluded from this clinical trial because of their poor prognosis and because they often develop progressive neurologic dysfunction that would confound the evaluation of neurologic and other adverse events.
HIV-positive patients are ineligible because these patients are at increased risk of lethal infections when treated with marrow-suppressive therapy. Appropriate studies will be undertaken in patients receiving combination antiretroviral therapy when indicated.
History of allergic reactions attributed to compounds of similar chemical or biologic composition to agents (steroids, cyclophosphamide, busulfan, tacrolimus, sirolimus, MMF, G-CSF, alemtuzumab) used in the study
Active psychiatric disorder which is deemed by the PI to have significant risk of compromising compliance with the transplant protocol or which does not allow for appropriate informed consent
Pregnant women are excluded from this study because the study agents have the potential for teratogenic or abortifacient effects. Because there is an unknown but potential risk for adverse events in nursing infants secondary to treatment of the mother with the study agents, breastfeeding should be discontinued if the mother is treated with the study agents.
Uncontrolled intercurrent illness including, but not limited to, symptomatic congestive heart failure, unstable angina pectoris, cardiac arrhythmia, or psychiatric illness/social situations that would limit compliance with study requirements.

What this trial measures

  • Sustained donor engraftmentbaseline to day +100

    neutrophil recovery with ANC \>/= 500/mm\^3 for 3 consecutive days with \>50% or \>75% T-cell and myeloid donor chimerism