Primary Immunodeficiency (PID)PRO-RICNCT04528355
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
An observational study of Primary Immunodeficiency (PID) and Congenital Bone Marrow Failure Syndromes, run by Paul Szabolcs at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 2 months to 60 years
- Conditions the study is for
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD)
- What is being tested?
- data collection
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 20 Aug 2020to 30 Jun 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 months to 60 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: patients with Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation
Who may be able to join
- 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:
- Primary Immunodeficiency Syndromes
- Severe Combined Immune Deficiency (SCID) with NK cell activity
- Omenn Syndrome
Show all 44Show fewer
- 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
- Congenital Bone Marrow Failure Syndromes
- Congenital Amegakaryocytic Thrombocytopenia (CAMT)
- Osteopetrosis
- 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
- Hereditary Anemias
- Thalassemia major
- Sickle cell disease (SCD)
- Diamond Blackfan Anemia (DBA)
- Inflammatory Conditions
- Crohn's Disease or Inflammatory Bowel Disease
- IPEX or IPEX-like Syndromes
- Rheumatoid Arthritis
- Other inflammatory conditions where HSCT may be beneficial
- 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.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
Shawna McIntyre, RN, 412-692-5552, mcintyresm@upmc.edu
Jessie Barnum, MD
About this study
Official title: A Prospective Outcomes Study of Pediatric and Adult Patients With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation With a Reduced-Intensity Conditioning Regimen (PRO-RIC)
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.
Read the 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
- Being tested
- data collection
- 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)
- Medical subject headings
- 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
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
data collectionDrug
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
incidence of acute graft versus host disease (GVHD)
grades 3-4, chronic extensive GVHD
Measured: up to 5 years
overall survival after HSCT
review of the existing medical records to check on the participant's survival status
Measured: up to 5 years
Secondary outcomes (4)
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
Measured: 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
Measured: 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
Measured: 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
Measured: up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Aug 2020
- Study start20 Aug 2020
- Primary completion31 Dec 2027 (estimated)
- Study completion30 Jun 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Primary Immunodeficiency (PID)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Paul Szabolcs
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Paul Szabolcs, University of Pittsburgh
- Investigators
- Paul Szabolcs, MD, Principal investigator, UPMC Children's Hospital of Pittsburgh
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04528355
- Sponsor's protocol ID
- STUDY20070105
- Acronym
- PRO-RIC
- Status last verified
- Jan 2026
- First submitted
- 18 Aug 2020
- Last updated
- 13 Jan 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective Outcomes Study of Pediatric and Adult Patients With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation With a Reduced-Intensity Conditioning Regimen (PRO-RIC)
- ClinicalTrials.gov ID
- NCT04528355
- Acronym / sponsor ID
- PRO-RIC / STUDY20070105
- 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
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Paul SzabolcsUniversity, hospital or other
- Study start
- 20 Aug 2020 (actual)
- Primary completion
- 31 Dec 2027 (estimated)
- Study completion
- 30 Jun 2028 (estimated)
- First posted
- 27 Aug 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 2 months to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- patients with Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation
Key inclusion criteria (44 listed)
- 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:
- 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.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| data collectionStudy 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. | Drug | – |
Primary outcome
incidence of acute graft versus host disease (GVHD)
Time frame: up to 5 years
grades 3-4, chronic extensive GVHD
overall survival after HSCT
Time frame: up to 5 years
review of the existing medical records to check on the participant's survival status
4 secondary outcomes
Describe degree of engraftment, based upon chimerism data
Time frame: up to 5 years
Describe probability to discontinue systemic immunosuppression medications
Time frame: by 6, 9, and 12 months post-HSCT
Describe the tempo of immune reconstitution
Time frame: over the first year post transplant
Describe the use of donor leukocyte infusion (DLI)
Time frame: up to 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Jan 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Paul Szabolcs, MD principal investigator
UPMC Children's Hospital of Pittsburgh
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Immunodeficiency (PID) and Congenital Bone Marrow Failure Syndromes, run by Paul Szabolcs at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 44 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Paul Szabolcs, MD (412-692-5427, paul.szabolcs@chp.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
incidence of acute graft versus host disease (GVHD) (time frame: up to 5 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Jan 2026; AzTrials last refreshed its copy on 26 Oct 2026.