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

ConditionsCommon 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

Trial statusRecruiting

Trial phasePhase 2

Trial typeInterventional

Biological sexAll

Age5-40

SponsorPaul Szabolcs

About this trial

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).

Eligibility criteria

Qualifiers

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.

Common variable immunodeficiency (CVID)

Disqualifiers

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.

Trial design

Treatments tested in this trial

Hematopoietic stem cell transplant (HSCT)

Treatment groups

25 Participants

are divided into 1 treatment group

Sponsors and collaborators

Paul Szabolcs

Lead sponsor

University of Pittsburgh

Sponsor institution

Source ClinicalTrials.gov