Have you or your loved ones been diagnosed with primary immunodeficiency (pid)?

You may be eligible to participate in a primary immunodeficiency (pid) clinical trial.

Have you or your loved ones been diagnosed with primary immunodeficiency (pid)? You may be eligible to participate in a primary immunodeficiency (pid) clinical trial.

What is a clinical trial? Is participating in a clinical trial right for you? Learn more

Primary Immunodeficiency (PID) Clinical Trial in Pittsburgh PA

NCT04528355 | Observational

Have you or your loved ones been diagnosed with primary immunodeficiency (pid)?

You may be eligible to participate in a primary immunodeficiency (pid) clinical trial.

Have you or your loved ones been diagnosed with primary immunodeficiency (pid)? You may be eligible to participate in a primary immunodeficiency (pid) clinical trial.

Recruiting

Male & Female

2 Months -
60 Years

This study is looking to recruit 50 Participants

This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft failure and to aid in immune reconstitution following hematopoietic stem cell transplantation.

Show me more details

Details for the study

Population

patients with Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation

Brief Title

Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC

Official Title

A Prospective Outcomes Study of Pediatric and Adult Patients With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation With a Reduced-Intensity Conditioning Regimen (PRO-RIC)

Brief Summary

This is a data collection study that will examine the general diagnostic and treatment data <br /> associated with the reduced-intensity chemotherapy-based regimen paired with simple <br /> alemtuzumab dosing strata designed to prevented graft failure and to aid in immune <br /> reconstitution following hematopoietic stem cell transplantation.

Detailed Description

Hematopoietic stem cell transplantation (HSCT) from a healthy donor can cure or alleviate a
broad spectrum of non-malignant disorders (NMD). Although reduced-intensity conditioning
(RIC) regimens promise decreased treatment-related morbidity and mortality, graft failure and
infections are limiting the use of RIC in chemotherapy-naive patients. Dr. Szabolcs have
completed several trials to evaluate a novel RIC regimen of alemtuzumab, hydroxyurea,
fludarabine, melphalan, and thiotepa. The last trial at UPMC Children's Hospital of
Pittsburgh of a highly effective and biologically rational chemotherapy-based RIC regimen
paired with simple alemtuzumab dosing strata was tested and resulted in outstanding survival
and remarkably low rates of graft failure. The favorable outcome described may serve as a
toxicity and efficacy reference for emerging gene therapy strategies as well.

This prospective collection of clinical data will allow the investigators to further assess
engraftment, GVHD, immunosuppressant use and overall survival in this patient population.

Treatments and/or Procedures

Data collection

Study subjects will receive alemtuzumab, melphalan, thiotepa, fludarabine and hydroxyurea-based, reduced-intensity conditioning regimen in accordance with clinical practice at UPMC Children's Hospital of Pittsburgh at the discretion of the treating physician. Medical data will be abstracted from subject's medical charts once the patient signs the informed consent.

Outcome Measures

Outcome measures are the tests that investigators perform to prove whether or not a treatment being tested in a clinical trial is having any effect.

Primary

incidence of acute graft versus host disease (GVHD)

grades 3-4, chronic extensive GVHD

up to 5 years

Primary

overall survival after HSCT

review of the existing medical records to check on the participant's survival status

up to 5 years

Secondary

Describe the use of donor leukocyte infusion (DLI)

review of the existing medical records to check on the participant's need for DLI

up to 5 years

Secondary

Describe degree of engraftment, based upon chimerism data

review of chimerism test results in the existing medical records to check on degree of donor engraftment measured by the percentage of donor-derived blood cells in the HSCT recipient

up to 5 years

Secondary

Describe probability to discontinue systemic immunosuppression medications

review of the existing medical records to check on the participant's current medications

by 6, 9, and 12 months post-HSCT

Secondary

Describe the tempo of immune reconstitution

review of the various test results in existing medical records to check on the participant's immune system recovery rate

over the first year post transplant

Study Criteria

Inclusion Criteria:

  1. Patient, parent, or legal guardian must have given written informed consent.

  2. Patient must be 2 months to 60 years (inclusive) of age at time of consent for all
     diagnoses.

  3. Patients should have a non-malignant disorder amenable to treatment by stem cell
     transplantation, including but not limited to the following:

     A. Primary Immunodeficiency Syndromes

       -  Severe Combined Immune Deficiency (SCID) with NK cell activity

       -  Omenn Syndrome

       -  Bare Lymphocyte Syndrome (BLS)

       -  Combined Immune Deficiency (CID) syndromes

       -  Combined Variable Immune Deficiency (CVID) syndrome

       -  Wiskott-Aldrich Syndrome

       -  Leukocyte adhesion deficiency

       -  Chronic granulomatous disease (CGD)

       -  Hyper IgM (XHIM) syndrome

       -  IPEX syndrome

       -  Chediak-Higashi Syndrome

       -  Autoimmune Lymphoproliferative Syndrome (ALPS)

       -  Hemophagocytic Lymphohistiocytosis (HLH) syndromes

       -  Lymphocyte Signaling defects

     B. Congenital Bone Marrow Failure Syndromes

       -  Congenital Amegakaryocytic Thrombocytopenia (CAMT)

       -  Osteopetrosis

     C. Inherited Metabolic Disorders (IMD)

       -  Mucopolysaccharidoses

            -  Hurler syndrome (MPS I)

            -  Hunter syndrome (MPS II)

       -  Leukodystrophies

            -  Krabbe Disease, also known as globoid cell leukodystrophy

            -  Metachromatic leukodystrophy (MLD)

            -  X-linked adrenoleukodystrophy (ALD)

       -  Other inherited metabolic disorders

            -  Alpha Mannosidosis

            -  Gaucher Disease

            -  Other inheritable metabolic diseases where HSCT may be beneficial

     D. Hereditary Anemias

       -  Thalassemia major

       -  Sickle cell disease (SCD)

       -  Diamond Blackfan Anemia (DBA)

     E. Inflammatory Conditions

       -  Crohn's Disease or Inflammatory Bowel Disease

       -  IPEX or IPEX-like Syndromes

       -  Rheumatoid Arthritis

       -  Other inflammatory conditions where HSCT may be beneficial

  4. Subjects receive either umbilical cord blood, bone marrow, or peripheral blood stem
     cell transplant with an alemtuzumab, melphalan, thiotepa, fludarabine and
     hydroxyurea-based, reduced-intensity conditioning regimen, according to clinical
     practice at UPMC Children's Hospital of Pittsburgh.

There are no exclusion criteria.

Have you or your loved ones been diagnosed with primary immunodeficiency (pid)?

Primary Immunodeficiency (PID) Clinical Trial in Pittsburgh PA

Have you or your loved ones been diagnosed with primary immunodeficiency (pid)?

2 Months - 60 Years

Details for the study

Population

Brief Title

Official Title

Brief Summary

Detailed Description

Treatments and/or Procedures

Outcome Measures

Study Criteria

2 Months -
60 Years