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

NCT04528355 | Recruiting DMC FDA Drug

• 1 other identifier: STUDY20070105
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

Severe Combined Immune Deficiency (SCID) with NK cell activity; Omenn Syndrome; Bare Lymphocyte Syndrome (BLS); Combined Immune Deficiency (CID) syndromes; 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; Congenital Amegakaryocytic Thrombocytopenia (CAMT); Osteopetrosis; Hurler syndrome (MPS I); Hurler syndrome (MPS II); Krabbe Disease, also known as Globoid Cell Leukodystrophy; Metachromatic leukodystrophy (MLD); X-linked adrenoleukodystrophy (ALD); Alpha Mannosidosis; Gaucher Disease; Thalassemia major; Sickle cell disease (SCD); Diamond Blackfan Anemia (DBA); Crohn's Disease; Inflammatory Bowel Disease; IPEX or IPEX-like Syndromes; Rheumatoid Arthritis

Outcome Measures

Primary Outcomes (2)

• incidence of acute graft versus host disease (GVHD)

  grades 3-4, chronic extensive GVHD

  up to 5 years

• overall survival after HSCT

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

  up to 5 years

Secondary Outcomes (4)

• Describe degree of engraftment, based upon chimerism data

  up to 5 years

• Describe probability to discontinue systemic immunosuppression medications

  by 6, 9, and 12 months post-HSCT

• Describe the tempo of immune reconstitution

  over the first year post transplant

• Describe the use of donor leukocyte infusion (DLI)

  up to 5 years

Interventions

data collection DRUG

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.

Eligibility Criteria

• Age: 2 Months - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• Patient, parent, or legal guardian must have given written informed consent.
• Patient must be 2 months to 60 years (inclusive) of age at time of consent for all diagnoses.
• 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

Sponsors & Collaborators

• Paul Szabolcs: lead

Study Sites (1)

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

RECRUITING

MeSH Terms

Conditions

Primary Immunodeficiency Diseases; Congenital Bone Marrow Failure Syndromes; Severe Combined Immunodeficiency; Syndrome; Wiskott-Aldrich Syndrome; Leukocyte adhesion deficiency type 1; Granulomatous Disease, Chronic; Hyper-IgM Immunodeficiency Syndrome; Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome; Chediak-Higashi Syndrome; Autoimmune Lymphoproliferative Syndrome; Lymphohistiocytosis, Hemophagocytic; Congenital amegakaryocytic thrombocytopenia; Osteopetrosis; Mucopolysaccharidosis I; Sudden Infant Death; Leukodystrophy, Globoid Cell; Leukodystrophy, Metachromatic; Adrenoleukodystrophy; alpha-Mannosidosis; Gaucher Disease; beta-Thalassemia; Anemia, Sickle Cell; Anemia, Diamond-Blackfan; Crohn Disease; Inflammatory Bowel Diseases; Arthritis, Rheumatoid

Interventions

Data Collection

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immunologic Deficiency Syndromes; Immune System Diseases; Bone Marrow Failure Disorders; Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases; Infant, Newborn, Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Disease; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Lymphopenia; Leukopenia; Cytopenia; Hemorrhagic Disorders; Leukocyte Disorders; Genetic Diseases, X-Linked; Phagocyte Bactericidal Dysfunction; Chronic Disease; Disease Attributes; Dysgammaglobulinemia; Blood Protein Disorders; Albinism; Eye Diseases, Hereditary; Eye Diseases; Lymphoproliferative Disorders; Lymphatic Diseases; Autoimmune Diseases; Immunoproliferative Disorders; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Osteosclerosis; Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Death, Sudden; Death; Infant Death; Hereditary Central Nervous System Demyelinating Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Leukoencephalopathies; Demyelinating Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Sulfatidosis; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Heredodegenerative Disorders, Nervous System; Peroxisomal Disorders; Adrenal Insufficiency; Adrenal Gland Diseases; Endocrine System Diseases; Mannosidase Deficiency Diseases; Thalassemia; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hemoglobinopathies; Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Red-Cell Aplasia, Pure; Gastroenteritis; Gastrointestinal Diseases; Digestive System Diseases; Intestinal Diseases; Arthritis; Joint Diseases; Rheumatic Diseases

Intervention Hierarchy (Ancestors)

Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• Paul Szabolcs, MD

  UPMC Children's Hospital of Pittsburgh

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Paul Szabolcs, MD

CONTACT

412-692-5427; paul.szabolcs@chp.edu

Shawna McIntyre, RN

CONTACT

412-692-5552; mcintyresm@upmc.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Chief, BMT-CT at CHP of UPMC and Professor of Pediatrics and Immunology, University of Pittsburgh

Study Record Dates

• First Submitted: August 18, 2020
• First Posted: August 27, 2020
• Study Start: August 20, 2020
• Primary Completion (Estimated): December 31, 2027
• Study Completion (Estimated): June 30, 2028
• Last Updated: January 13, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)