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

NCT ID: NCT04528355

Last Updated: 2026-01-13

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 50 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2020-08-20
• Study Completion Date: 2028-06-30

Brief Summary

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.

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.

Conditions

Primary Immunodeficiency (PID); Congenital Bone Marrow Failure Syndromes; Inherited Metabolic Disorders (IMD); Hereditary Anemias; Inflammatory Conditions

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Interventions

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.

Intervention Type: DRUG

Eligibility 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.

• Minimum Eligible Age: 2 Months
• Maximum Eligible Age: 60 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Paul Szabolcs

OTHER

Sponsor Role: lead

Responsible Party

Paul Szabolcs

Chief, BMT-CT at CHP of UPMC and Professor of Pediatrics and Immunology, University of Pittsburgh

Responsibility Role: SPONSOR_INVESTIGATOR

Principal Investigators

Paul Szabolcs, MD

Role: PRINCIPAL_INVESTIGATOR

UPMC Children's Hospital of Pittsburgh

Locations

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Paul Szabolcs, MD

Role: CONTACT

paul.szabolcs@chp.edu

412-692-5427

Shawna McIntyre, RN

Role: CONTACT

mcintyresm@upmc.edu

412-692-5552

Facility Contacts

Shawna McIntyre, RN

Role: primary

mcintyresm@upmc.edu

412-692-5552

Other Identifiers

STUDY20070105

Identifier Type: -

Identifier Source: org_study_id