An observational study in Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes and Inherited Metabolic Disorders (IMD), sponsored by Paul Szabolcs. Recruiting at 1 site in United States. Open to participants aged 2 Months to 60 Years. Per ClinicalTrials.gov, last updated 2026-01-13.
Sponsored by Paul Szabolcs · Observational
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.
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.
211 studies on the registry are indexed under Primary Immunodeficiency Diseases; 51 are open to participants now.
This study's planned enrollment of 50 is below the median of 137 across 77 observational studies indexed under Primary Immunodeficiency Diseases.
Browse Primary Immunodeficiency Diseases studies →Paul Szabolcs is the lead sponsor of 9 studies on the registry; 9 are open to participants now.
Counted across the registry records on this site, refreshed daily.
patients with Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation
Inclusion Criteria:
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
B. Congenital Bone Marrow Failure Syndromes
C. Inherited Metabolic Disorders (IMD)
Mucopolysaccharidoses
Leukodystrophies
Other inherited metabolic disorders
D. Hereditary Anemias
E. Inflammatory Conditions
There are no exclusion criteria.
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.
Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.
Stem cell (bone marrow) transplants. Allogeneic uses cells from a donor; autologous uses your own cells, collected earlier and given back.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Autoimmune disease
A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.
Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Allogeneic and autologous transplant
Stem cell (bone marrow) transplants. Allogeneic uses cells from a donor; autologous uses your own cells, collected earlier and given back.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
incidence of acute graft versus host disease (GVHD)
grades 3-4, chronic extensive GVHD
Time frame: up to 5 years
overall survival after HSCT
review of the existing medical records to check on the participant's survival status
Time frame: up to 5 years
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
Time frame: up to 5 years
Describe probability to discontinue systemic immunosuppression medications
review of the existing medical records to check on the participant's current medications
Time frame: by 6, 9, and 12 months post-HSCT
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
Time frame: over the first year post transplant
Describe the use of donor leukocyte infusion (DLI)
review of the existing medical records to check on the participant's need for DLI
Time frame: up to 5 years
Plan to share: No
No publications or documents are linked to this record.
Started Aug 2020 (actual). Primary completion is estimated for Dec 2027, 88 months after the start.
Of 50 observational studies under Primary Immunodeficiency Diseases, half reached primary completion within 72 months of starting (the median), counting those still running; a quarter within 30. This study's planned 88 months is above that.
How these figures are worked out, and which studies are left out of them.
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Primary Immunodeficiency Diseases →
Paul Szabolcs