Can lower chemo doses help babies with SCID build better immunity?

NCT ID NCT03619551

Disease control Sponsor: Center for International Blood and Marrow Transplant Research Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Aug 28, 2026 · Updated 7 times

Summary

This phase 2 trial studies whether lower doses of the chemotherapy drug busulfan can help infants with severe combined immunodeficiency (SCID) achieve good immune function after a stem cell transplant, while reducing short- and long-term risks. The trial includes 56 babies receiving transplants from unrelated or half-matched related donors, with most T and B cells removed from the donor cells to lower the risk of graft-versus-host disease. Participants are followed for 3 years to see if they can produce antibodies after vaccinations.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance: busulfan (chemotherapy) and stem cell transplant with T-cell and B-cell removal
What this could lead to: If successful, this could lead to safer stem cell transplants for babies with SCID, helping them build their own immunity with fewer side effects.
What could go wrong: This is a small, early-phase trial with only 56 participants, so results may not apply to all SCID cases. The experimental cell removal process may not prevent graft-versus-host disease or other complications.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 2

Tests whether the treatment actually works, and watches for side effects, in a larger group.

Participants

About 56 people

The number the study aims to enrol. It can still change while the study runs.

Started

Oct 2018

Expected to finish

Dec 2028

An estimate. End dates often move.

Lead sponsor

A research network

The lead sponsor is a research network or cooperative group.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

0 to 2 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: 1\. Infants with SCID, either typical or leaky or Omenn syndrome. 1. Typical SCID is defined as either of the following * Absence or very low number of T cells (CD3+ T cells \<300/microliter AND no or very low T cell function (\<10% of lower limit of normal) as measured by response to phytohemagglutinin OR * Presence of maternally derived T cells 2. Leaky SCID is defined as the following • Absence of maternally derived T cells • AND either one or both of the following (i, ii): i) \<50% of lower limit of normal T cell function as measured by response to PHA OR \<30% of lower limit of normal T cell function as measured by response to CD3 ii) Absent or \<10% of lower limit of normal proliferative responses to candida and tetanus toxoid antigens (must document post vaccination or exposure for this criterion to apply) • AND at least two of the following (i through iii): i) CD3 T cells \< 1500/microliter ii) \>80% of CD3+ or CD4+ T cells are CD45RO+ AND/OR \>80% of CD3+ or CD4+ T cells are CD62L negative AND/OR \>50% of CD3+ or CD4+ T cells express HLA-DR (at \< 4 years of age) AND/OR are oligoclonal T iii) Low TRECs and/or the percentage of CD4+/45RA+/CD31+ or CD4+/45RA+/CD62L+ cells is below the lower level of normal. 3. Omenn syndrome • Generalized skin rash * Maternal lymphocytes tested for and not detected. * \>80% of CD3+ or CD4+ T cells are CD45RO+ AND/OR \>80% of CD3+ or CD4+ T cells are CD62L negative AND/OR \>50% of CD3+ or CD4+ T cells express HLA-DR (\<2 years of age) * Absent or low (up to 30% lower limit of normal (LLN)) T cell proliferation to antigens (Candida, tetanus) to which the patient has been exposed IF: Proliferation to antigen was not performed, but at least 4 of the following 8 supportive criteria, at least one of which must be among those marked with an asterisk (\*) below are present, the patient is eligible as Omenn Syndrome. 1. Hepatomegaly 2. Splenomegaly 3. Lymphadenopathy 4. Elevated IgE 5. Elevated absolute eosinophil count 6. \*Oligoclonal T cells measured by CDR3 length or flow cytometry (upload report) 7. \*Proliferation to PHA is reduced to \< 50% of lower limit of normal (LLN) or SI \< 30 8. \*Low TRECs and/or percentage of CD4+/RA+ CD31+ or CD4+/RA+ CD62L+ cells below the lower level of normal 2\. Documented mutation in one of the following SCID-related genes a. Cytokine receptor defects (IL2RG, JAK3) b. T cell receptor rearrangement defects (RAG1, RAG2) 3. No available genotypically matched related donor (sibling) 4. Availability of a suitable donor and graft source 1. Haploidentical related mobilized peripheral blood cells 2. 9/10 or 10/10 allele matched (HLA-A, -B, -C, -DRB1, -DQB1) volunteer unrelated donor mobilized peripheral blood cells 5. Age 0 to 2 years at enrollment Note: to ensure appropriate hepatic metabolism, age at time of busulfan start: For IL2RG/JAK3: 8 weeks For RAG1/RAG2: 12 weeks 6\. Adequate organ function defined as: 1. Cardiac: Left ventricular ejection fraction (LVEF) at rest ≥ 40% or, shortening fraction (SF) ≥ 26% by echocardiogram. 2. Hepatic: Total bilirubin \< 3.0 x the upper limit of normal (ULN) for age (patients who have been diagnosed with Gilbert's Disease are allowed to exceed this limit) and AST and ALT \< 5.0 x ULN for age. 3. Renal: GFR estimated by the updated Schwartz formula ≥ 90 mL/min/1.73 m2. If the estimated GFR is \< 90 mL/min/1.73 m2, then renal function must be measured by 24-hour creatinine clearance or nuclear GFR, and must be \> 50 mL/min/1.73 m2. 4. Pulmonary No need for supplemental oxygen and O2 saturation \> 92% on room air at sea level (with lower levels allowed at higher elevations per established center standard of care). Exclusion Criteria: 1. Presence of any serious life-threatening or opportunistic infection at time of enrollment and prior to the initiation of the preparative regimen. Serious infections as defined below that occur after enrollment must be reported immediately to the Study Coordinating Center, and enrollment will be put on hold until the infection resolves. Ideally enrolled subjects will not have had any infection. If patients have experienced infections, these must have resolved by the following definitions: a. Bacterial i. Positive culture from a sterile site (e.g. blood, CSF, etc.): Repeat culture(s) from same site must be negative and patient has completed appropriate course of antibacterial therapy (typically at least 10 days). ii. Tissue-based clinical infection (e.g. cellulitis): Complete resolution of clinical signs (e.g. erythema, tenderness, etc.) and patient has completed appropriate course of antibacterial therapy (typically at least 10 days). iii. Pneumonia, organism not identified by bronchoalveolar lavage: Complete resolution of clinical signs (e.g. tachypnea, oxygen requirement, etc.) and patient has completed appropriate course of antibacterial therapy (typically at least 10 days). If possible, radiographic resolution should also be demonstrated. b. Fungal i. Positive culture from a sterile site (e.g. blood, CSF, etc.): Repeat culture(s) from same site is negative and patient has completed appropriate course of antifungal therapy (typically at least 14 days). The patient may be continued on antifungal prophylaxis following completion of the treatment course. c. Pneumocystis i. Complete resolution of clinical signs (e.g. tachypnea, oxygen requirement, etc.) and patient has completed appropriate course of therapy (typically at least 21 days). If possible, radiographic resolution should also be demonstrated. The patient may be continued on prophylaxis following completion of the treatment course. d. Viral i. Viral PCRs from previously documented sites (blood, nasopharynx, CSF) must be re-tested and are negative. ii. If re-sampling a site is not clinically feasible (i.e. BAL fluid): Complete resolution of clinical signs (e.g. tachypnea, oxygen requirement, etc.). If possible, radiographic resolution should also be demonstrated. 2. Patients with HIV or HTLV I/II infection will be excluded.

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Conditions

The condition(s) this trial relates to.

Omenn syndrome severe combined immunodeficiency

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

SCID

Contacts and locations

Locations

All Children's Hospital

St. Petersburg, Florida, 33701, United States
Cancer Care Manitoba/University of Manitoba

Winnipeg, Winnipeg, MB, Canada
Centre Hospitalier Universitaire Sainte-Justine

Montreal, Montreal, QC, Canada
Children's Healthcare of Atlanta at Egleston

Atlanta, Georgia, 30329, United States
Children's Hospital / LSUHSC

New Orleans, Louisiana, 70118, United States
Children's Hospital Los Angeles

Los Angeles, California, 90027, United States
Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States
Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15224, United States
Children's Hospital of Wisconsin

Milwaukee, Wisconsin, 53226, United States
Children's Medical Center Dallas

Dallas, Texas, 75235, United States
Children's National Medical Center

Washington D.C., District of Columbia, 20010, United States
Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States
Cohen Children's Medical Center

Queens, New York, 11040, United States
Comer Children's Hospital/University of Chicago Medicine

Chicago, Illinois, 60637, United States
Dana Farber Cancer Institute - Peds

Boston, Massachusetts, 02115, United States
Duke University Medical Center; Pediatric Blood and Marrow Transplant

Durham, North Carolina, 27705, United States
Fred Hutchinson Cancer Research Center

Seattle, Washington, 98109, United States
Hackensack University Medical Center

Hackensack, New Jersey, 07601, United States
Helen DeVos Children's

Grand Rapids, Michigan, 49503, United States
Levine Children's Hospital

Charlotte, North Carolina, 28203, United States
Mayo Clinic Arizona and Phoenix Children's Hospital

Phoenix, Arizona, 85016, United States
Memorial Sloan Kettering Cancer Center - Peds

New York, New York, 10065, United States
Morgan Stanley Children's Hospital of New York-Presbyterian - Columbia University Medical Center

New York, New York, 10032, United States
Nebraska Medicine

Omaha, Nebraska, 68198, United States
Oregon Health and Science University

Portland, Oregon, 97239-3098, United States
Rady Children's Hospital, San Diego

San Diego, California, 92123, United States
Shands HealthCare & University of Florida

Gainesville, Florida, 32610, United States
The Children's Mercy Hospitals and Clinics

Kansas City, Missouri, 64108, United States
The Hospital for Sick Children

Toronto, Ontario, M5G 1E8, Canada
The University of Michigan

Ann Arbor, Michigan, 48109, United States
UCLA Center for Health Sciences

Los Angeles, California, 90095, United States
Univeristy of Alabama at Birmingham

Birmingham, Alabama, 35294, United States
University of California San Francisco Medical Center - Peds

San Francisco, California, 94143, United States
University of Colorado - Children's Hospital

Aurora, Colorado, 80045, United States
University of Iowa Hospitals & Clinics

Iowa City, Iowa, 52242, United States
University of Miami/Jackson Memorial Hospital

Miami, Florida, 33136, United States
University of Minnesota Blood and Marrow Transplant Program - Pediatrics

Minneapolis, Minnesota, 55455, United States
University of Wisconsin Hospital and Clinics

Madison, Wisconsin, 53792, United States
Utah Blood and Marrow Transplant Program-Peds

Salt Lake City, Utah, 84112, United States
Vanderbilt University Medical Center

Nashville, Tennessee, 37232, United States

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