Actively Recruiting
Allogeneic Hematopoietic Stem Cell Transplant for Patients With Inborn Errors of Immunity
Led by National Cancer Institute (NCI) · Updated on 2026-05-04
66
Participants Needed
1
Research Sites
375 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: During a transplant, blood stem cells from one person are given to someone else. The cells grow into the different cells that make up the immune system. This can cure people with certain immunodeficiencies. But transplant has many risks and complications. Objective: To see if stem cell transplant can be successfully performed in people with primary immunodeficiency disease and cure them. Eligibility: People ages 4-69 for whom a primary immunodeficiency (PID) or Primary Immune Regulatory Disorder (PIRD), has caused significant health problems and either standard management has not worked or there are no standard management options, along with their donors Design: Donors will be screened under protocol 01-C-0129. They will donate blood or bone marrow. Participants will be screened with: Medical history Physical exam Blood, urine, and heart tests CT or PET scans Before transplant, participants will have dental and eye exams. They will have a bone marrow biopsy. For this, a needle will be inserted through the skin into the pelvis to remove marrow. Participants will be hospitalized before their transplant. They will have a central catheter put into a vein in their chest or neck. They will get medications through the catheter to prevent complications. Participants will get stem cells through the catheter. They will stay in the hospital for at least 4 weeks. They will give blood, urine, bone marrow, and stool samples. They may need blood transfusions. They may need more scans. They will take more medications. Participants will have visits on days 30, 60, 100, 180, and 360, and 24 months after the transplant. Then they will have visits once a year for about 5 years
CONDITIONS
Official Title
Allogeneic Hematopoietic Stem Cell Transplant for Patients With Inborn Errors of Immunity
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age 4 to 69 years with weight at least 12 kilograms
- Mutation in a known monogenic inborn error of immunity gene confirmed by certified laboratory, with failed standard treatment or no available standard treatment
- Or clinical history showing immune defects such as recurrent infections needing prolonged therapy, autoimmune/autoinflammatory disease, atopy, hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, impaired vaccine response, or virally-driven malignancy
- Availability of an 8/8, 7/8, or 6/8 HLA-matched related or unrelated donor, or a haploidentical related donor
- Karnofsky or Lansky performance status of 40% or higher
- Adequate heart function with left ventricular ejection fraction over 40% within 60 days prior to enrollment
- Kidney function with creatinine and clearance levels as specified for adults and children
- Liver function with serum conjugated bilirubin under 2.5 mg/dl and ALT and AST within 5 times normal
- Pulmonary function with FEV1 and DLCO over 30%; children unable to perform DLCO test eligible if no breathing issues at rest and no oxygen needed
- Ability to understand and sign informed consent; legal guardian consent and pediatric assent as applicable
- Agreement to use effective contraception before and for one year after transplant
- Willingness to stay in or near the NIH hospital for at least 100 days post-transplant with adult caregiver support if outpatient
You will not qualify if you...
- Receiving any other investigational agents except virus-specific therapy before transplant
- Known brain metastases
- HIV-positive status
- History of allergic reactions to study drugs including steroids, cyclophosphamide, busulfan, tacrolimus, sirolimus, mycophenolate mofetil, G-CSF, or alemtuzumab
- Active psychiatric disorder that risks non-compliance or prevents informed consent
- Pregnancy or breastfeeding due to potential risks from study drugs
- Uncontrolled serious illness such as symptomatic congestive heart failure, unstable angina, cardiac arrhythmia, or psychiatric/social issues limiting study compliance
AI-Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
S
Shannon L Knight, R.N.
CONTACT
S
Sung-Yun Pai, M.D.
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
PARALLEL
Primary Purpose
TREATMENT
Number of Arms
2
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