NCT07284641

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

• Status: Recruiting
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 25 (estimated)
• Sponsor: Paul Szabolcs · Academic / Other
• Sex: All
• Age: 5 Years – 40 Years
• Healthy volunteers: Not accepted

Summary

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).

Detailed description

Hematopoietic stem cell transplant (HSCT) with reduced-intensity conditioning has been demonstrated as the best definitive therapy to correct many of these inheritable immune defects (Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD). This is a single center, open label, non-randomized, Phase II study in which subjects receive an allogenic, fully (8 of 8 match) or partially Human Leukocyte Antigen (HLA)-matched (6-7/8 HLA-matched), stem cell transplant utilizing a conditioning regimen of alemtuzumab/Campath, anti-thymocyte globulin/rabbit (ATG), Fludarabine and Melphalan and Total Body Irradiation (TBI). Graft sources include bone marrow or mobilized peripheral blood stem cells from either a related or unrelated donor. After stem cell infusion, subjects are followed for 2 years per standard of care practices.

Conditions

• 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

Interventions

Type	Name	Description
BIOLOGICAL	Hematopoietic stem cell transplant (HSCT)	The participant will receive an allogenic, fully (8 of 8 match) or partially HLA-matched (6-7/8 HLA-matched), stem cell transplant utilizing a conditioning regimen of alemtuzumab/Campath, anti-thymocyte globulin/rabbit ATG, Fludarabine and Melphalan and total body irradiation.

Timeline

• Start date: 2026-03-01
• Primary completion: 2030-02-01
• Completion: 2031-02-01
• First posted: 2025-12-16
• Last updated: 2026-02-20

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study