Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)

Recruiting now · Phase 2

Conditions studied: Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome, STAT 1 Gain of Function, STAT 3 Gain of Function, Hypomorphic RAG1 Deficiency, CD40 Ligand Deficiency, Mendelian Susceptibility to Mycobacterial Disease, GATA2 Associated Immunodeficiency, CD40 Deficiency, Hypomorphic RAG2 Deficiency, Immune Dysregulation Polyendocrinopathy Enteropathy X-Linked Syndrome, Omenn Syndrome, Chronic Granulomatous Disease

In brief

This is a research protocol that will examine Hematopoietic Stem Cell Transplantation (HSCT) using a reduced conditioning regimen (RIC) with total body Irradiation (TBI) in those diagnosed with Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD).

Key facts

Study ID: NCT07284641
Run by: Paul Szabolcs
People needed: 25
Starts: 2026-05-04
Expected to finish: 2031-02-01
Last updated by the study team: 2026-05-15

Who can join

Age: 5 and older, up to 40. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

Patient, parent, or legal guardian must have given written informed consent. For pediatric subjects who are developmentally able, assent or affirmation will be obtained.
Male or female, 5 through 40 years old, inclusive, at the time of informed consent.
Patients must have evidence of common variable immunodeficiency (CVID) or other autoimmune manifestation of a primary immune regulatory disorder (PIRD). Genetic screening is required by a targeting gene panel to determine presence of genetic variations that may lead to inborn errors of immunity.
Examples of such diseases include, but are not limited to:
Common variable immunodeficiency (CVID)
Combined Immunodeficiency (CID)
Immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX syndrome), IPEX like syndromes
Combined immunodeficiency with defects in T-cell-mediated immunity, including Omenn syndrome and DiGeorge Syndrome
Chronic Granulomatous Disease (CGD)
Signal Transducer and Activator of Transcription (STAT 1) Gain of Function (STAT1 GOF)
Signal Transducer and Activator of Transcription (STAT 3) Gain of Function (STAT3 GOF)
Hypomorphic Recombination-Activating Genes (RAG) 1 and RAG 2
CD40 or CD40L deficiency
Mendelian Susceptibility to Mycobacterial Disease
GATA-binding factor 2 (GATA2) Associated Immunodeficiency
Mouth and Genital Ulcers with Inflamed Cartilage Syndrome (MAGIC)
Must have previously failed, due to lack of response or intolerance, mycophenolate mofetil and a B cell-depleting antibody, such as Rituximab
Glomerular Filtration Rate (GFR) ≥50 mL/min/1.73 m2
Aspartate Aminotransferase (AST) ≤4x upper limit of normal
Alanine Aminotransferase (ALT) ≤4x upper limit of normal
Direct bilirubin ≤ 2.5 mg/dL
Human Immunodeficiency Virus (HIV) negative by serology and PCR
Human T-cell Lymphotropic Virus (HTLV) negative by serology
Cardiac ejection fraction ≥ 40% or shortening fraction ≥26%
Forced Vital Capacity (FVC) and Forced Expiratory Volume in 1 second (FEV1) ≥40% predicted for age

You may not qualify if…

Allergy to Dimethylsulfoxide (DMSO) or any other ingredient used in the manufacturing of the stem cell product
Uncontrolled systemic infection, as determined by the appropriate confirmatory testing e.g. blood cultures, Polymerase chain reaction (PCR) testing, etc.
Recent recipient of any licensed or investigational live attenuated vaccine(s) within 4 weeks of stem cell transplant
Past or current medical problems or findings from physical examination or laboratory testing that are not listed above, which, in the opinion of the investigator, may pose additional risks from participation in the study, may interfere with the subject's ability to comply with study requirements or that may impact the quality or interpretation of the data obtained from the study.

Where it is running

UPMC Children's Hospital of Pittsburgh — Pittsburgh, Pennsylvania, United States (enrolling)

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.