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

Study Purpose

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.

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.

An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.

Searching Both is inclusive of interventional and observational studies.

Eligible Ages 2 Months - 60 Years
Gender All
More Inclusion & Exclusion 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.

Trial Details

Trial ID:

This trial id was obtained from, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.


Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

Paul Szabolcs
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

Paul Szabolcs, MD
Principal Investigator Affiliation UPMC Children's Hospital of Pittsburgh
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Overall Status Recruiting
Countries United States

The disease, disorder, syndrome, illness, or injury that is being studied.

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

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.

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania




UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224

Site Contact

Shawna McIntyre, RN