Actively Recruiting

Phase 2
Age: 5Years - 40Years
All Genders
ID07284641

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

Led by Paul Szabolcs · Updated on 2026-05-15

25

Participants Needed

1

Research Sites

39 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are evaluating hematopoietic stem cell transplantation (HSCT) with a reduced-intensity conditioning regimen including total body irradiation for people diagnosed with Common Variable Immunodeficiency (CVID) and other autoimmune manifestations of Primary Immune Regulatory Disorders (PIRD). This Phase II, open-label study focuses on correcting inheritable immune defects in patients aged 5 to 40 years. Genetic screening is required to identify relevant immune deficiencies such as CID, IPEX syndrome, and others. Participants will receive an allogenic stem cell transplant from a related or unrelated donor matched fully or partially by human leukocyte antigen (HLA). The conditioning regimen includes alemtuzumab/Campath, anti-thymocyte globulin, fludarabine, melphalan, and total body irradiation. Graft sources include bone marrow or mobilized peripheral blood stem cells. After the transplant, subjects are monitored for two years following standard care practices. During the study, participants will undergo regular evaluations including chimerism testing at multiple time points up to 24 months, immune function assessments such as immunoglobulin levels, and monitoring for graft-versus-host disease. The primary outcome is survival two years after transplant. Secondary outcomes include immune cell engraftment, immunoglobulin independence, and incidence of acute and chronic graft-versus-host disease. Safety and function are closely followed throughout the study period.

CONDITIONS

Brief Title

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

Who Can Participate

Age: 5Years - 40Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Written informed consent from patient, parent, or legal guardian; assent if developmentally able
  • Male or female aged 5 through 40 years at consent
  • Evidence of CVID or autoimmune manifestation of a primary immune regulatory disorder confirmed by genetic screening
  • Failure or intolerance to mycophenolate mofetil and a B cell-depleting antibody like Rituximab
  • Glomerular Filtration Rate (GFR) ≥ 50 mL/min/1.73 m2
  • Aspartate Aminotransferase (AST) ≤ 4 times upper limit of normal
  • Alanine Aminotransferase (ALT) ≤ 4 times upper limit of normal
  • Direct bilirubin ≤ 2.5 mg/dL
  • Negative HIV by serology and PCR
  • Negative HTLV 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
  • Peripheral Capillary Oxygen Saturation (SpO2) > 92% at rest on room air
  • At least 8 weeks post-solid organ transplant before conditioning, if applicable
  • Negative pregnancy test for females over 10 years old or post-menarche unless surgically sterilized
  • Agreement to use FDA-approved birth control for females of childbearing potential and sexually active males for up to 12 months post-transplant or while on harmful medications
  • Informed of infertility risks and advised on sperm or oocyte preservation
  • Transplant endorsement from a clinical immunologist
Not Eligible

You will not qualify if you...

  • Allergy to Dimethylsulfoxide (DMSO) or ingredients in the stem cell product
  • Uncontrolled systemic infection
  • Receipt of any live attenuated vaccine within 4 weeks prior to transplant
  • Medical problems or findings that increase risk or interfere with study compliance as judged by the investigator

AI-Screening

AI-Powered Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Treatment

Duration - Single transplant procedure with conditioning period

Participants receive a hematopoietic stem cell transplant (HSCT) with a conditioning regimen including alemtuzumab/Campath, anti-thymocyte globulin, Fludarabine, Melphalan, and total body irradiation.

1 transplant visit and immediate post-transplant care

Follow-up

Duration - 2 years

Participants are followed for 2 years after transplant per standard of care practices to monitor survival, engraftment, immune reconstitution, graft-versus-host disease, and other outcomes.

Multiple visits over 2 years including assessments at 1, 2, 3, 6, 12, 18, and 24 months post-transplant

Trial Site Locations

Total: 1 location

1

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, United States, 15224

Actively Recruiting

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Research Team

S

Shawna A McIntyre, RN

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NA

Model

SINGLE_GROUP

Primary Purpose

TREATMENT

Number of Arms

1

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