Recruiting

Observational Study

Sponsor:

Paul Szabolcs

Code:

NCT04528355

Conditions

Primary Immunodeficiency (PID)

Congenital Bone Marrow Failure Syndromes

Inherited Metabolic Disorders (IMD)

Hereditary Anemias

Inflammatory Conditions

Eligibility Criteria

Sex: All

Age: 0 - 60

Healthy Volunteers: Not accepted

Interventions

data collection

Study Details

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

Study ID

NCT04528355

Start date

Aug 20, 2020

Status verified date

Jan, 2026

Completion date

Jun 30, 2028

Anticipated

Primary completion date

Dec 31, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 60

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

50 participants

Anticipated

Interventions and Outcome Measures

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.

Primary outcome measure

  • incidence of acute graft versus host disease (GVHD) [ Time Frame: up to 5 years ]
  • overall survival after HSCT [ Time Frame: up to 5 years ]

Central Contacts and Locations

Central contacts

Paul Szabolcs, MD

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

Shawna McIntyre, RN

412-692-5552mcintyresm@upmc.edu

Locations

UPMC Children's Hospital of Pittsburgh

Recruiting

Pittsburgh, Pennsylvania, United States, 15224

Contacts

Shawna McIntyre, RN

412-692-5552mcintyresm@upmc.edu

More Information

Sponsor

Paul Szabolcs

Last update posted

Jan 13, 2026

Last verified

Jan, 2026

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Paul Szabolcs on 2026-01-13.