A Phase 2 interventional study of Haploidentical Hematopoietic Cell Transplantation in Primary Immune Deficiency Disorders and Metabolic Disease, sponsored by Johns Hopkins All Children's Hospital. Recruiting at 1 site in United States. Open to participants aged Up to 21 Years. Per ClinicalTrials.gov, last updated 2026-07-01.
Sponsored by Johns Hopkins All Children's Hospital · Phase 2, Interventional, and Treatment
This research is being done to learn if a new type of haploidentical transplantation using TCR alpha beta and CD19 depleted stem cell graft from the donor is safe and effective to treat the patient's underlying condition. This study will use stem cells obtained via peripheral blood or bone marrow from parent or other half-matched family member donor. These will be processed through a special device called CliniMACS, which is considered investigational.
199 studies on the registry are indexed under Primary Immunodeficiency Diseases; 46 are open to participants now.
This study's planned enrollment of 17 is below the median of 37 across 121 interventional studies indexed under Primary Immunodeficiency Diseases.
Browse Primary Immunodeficiency Diseases studies →Johns Hopkins All Children's Hospital is the lead sponsor of 25 studies on the registry; 6 are open to participants now.
Of its 5 completed or terminated interventional studies of FDA-regulated products, 5 (100%) have results posted.
Counted across the registry records on this site, refreshed daily.
Inclusion Criteria:
Patient with any form of primary immune deficiency/dysregulatory disorders characterized by aberrant immune function, abnormal hematopoiesis, systemic or organ specific autoimmunity and/or non-malignant lymphoproliferation. This includes, but not limited to:
I. Disorders of phagocytes: Chronic granulomatous disease, Leukocyte adhesion deficiency, defects of IL-10 pathway, MonoMac syndrome
II. Defects of cellular and humoral immunity: Severe Combined Immunodeficiency Disorder (infants with classic SCID up to 2 years of age will be excluded due to other open protocol), X-linked hyper-IgM syndrome, DOCK8 deficiency, ZAP70 deficiency, common variable immunodeficiency (CVID), Wiskott-Aldrich syndrome, NEMO deficiency.
III. Disorder of immune dysregulation: Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome, CTLA4 deficiency, LRBA deficiency, STAT1 GOF, STAT3 GOF, X-linked lymphoproliferative disease etc.
IV. Other PIDs and immune dysregulatory disorders who can be benefitted by HCT as deemed appropriate by the PI and the treating immunologist.
Inclusion Criteria:
Patients must have adequate organ function measured by:
Exclusion Criteria:
The leukapheresis product will undergo TCR alpha beta negative selection following a standardized protocol
Biological: Haploidentical Hematopoietic Cell Transplantation
TCR alpha beta T-cell and CD19 B-cell depleted haploidentical transplantation
Incidence of successful donor engraftment
The incidence of engraftment at day 100 will be described based on donor chimerism in the whole blood and or fractions sorted for T-cell and myeloid subsets. The donor chimerism will be scored as autologous reconstitution (\< 5% donor), mixed chimerism (5-49%=low mixed, 50-95%=high mixed), \> 95%=full donor chimerism.
Time frame: Day 100 after transplantation
Overall survival and Event-free survival
Overall survival is defined as the time of enrollment to death from any cause or last follow up. Event-free survival is defined as the time of enrollment to death, primary or secondary graft failure, graft failure necessitating a second HCT procedure, DLI or stem cell boost given for treatment of falling chimerism, or disease recurrence
Time frame: Up to 2 years post transplant
Kinetics of neutrophil engraftment
Neutrophil engraftment defined as absolute neutrophil count ≥500/μL for 3 consecutive measurements on different days
Time frame: Up to 42 days post transplant
Kinetics of platelet engraftment
Platelet engraftment defined as sustained platelet count \>20,000/μL and \>50,000//μL with no platelet transfusions in the preceding seven days.
Time frame: Up to 42 days post transplant
Transplant-related mortality
Rate of transplant-related mortality
Time frame: Up to 100 days post transplant
Acute grade II-IV GvHD
Incidence and severity of acute graft versus host disease
Time frame: Up to 2 years post transplant
Chronic GvHD
Incidence and severity of chronic graft versus host disease
Time frame: Up to 2 years post transplant
Primary graft failure
Rates of primary graft failure
Time frame: Up to 2 years post transplant
Secondary graft failure
Rates of secondary graft failure
Time frame: Up to 2 years post transplant
Transplant-related complications
Frequency of transplant-related complications following transplantation
Time frame: Up to 2 years post transplant
Transplant-related infections
Frequency of transplant-related infections following transplantation
Time frame: Up to 2 years post transplant
Cellular and Immunological reconstitution by laboratory evaluations
The recovery of different lymphocyte subpopulation (CD3+; CD4+; CD8+; CD3+CD45RA+and CD45RO; TCR alpha beta; TCR gamma delta; CD19+)
Time frame: Up to 2 years post transplant
Plan to share: No
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