Finding the best busulfan dose for infants with SCID
Official title: Clinical and mechanistic studies defining optimal preparative approaches to infants with IL2RG/JAK3/RAG1/RAG2 SCID: a randomized trial of busulfan dosage
Funded at National Marrow Donor Program · NIH-11168867 · Data updated 2026-11-12
This project compares lower versus moderate doses of the chemotherapy drug busulfan to help infants with IL2RG-, JAK3-, or RAG1/2-related SCID rebuild their immune systems after a donor bone marrow transplant.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | National Marrow Donor Program NIH-funded |
| Lab location | 1 site (Minneapolis, United States) |
| Project start | August 13, 2024 |
| Project end | May 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $1,076,893 |
| NIH project number | 5U01AI184132-02 |
| Project ID | NIH-11168867 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are infants or very young children diagnosed with IL2RG-, JAK3-, or RAG1/2-related SCID who are scheduled for an unrelated or haploidentical donor hematopoietic cell transplant.
✕Less likely to help
Children who have matched sibling donors, who have different genetic causes of immune deficiency, or who are not undergoing an allogeneic transplant are unlikely to benefit from this protocol.
What this research studies
If your baby has one of the listed SCID gene changes, they would be randomly assigned to receive either a lower or a moderate cumulative exposure to busulfan before a donor hematopoietic cell transplant. Some children will also receive additional medicines (rATG, and for RAG1/2 patients may include fludarabine and thiotepa) and can get cells from unrelated or haploidentical family donors. The team will follow immune recovery over time, focusing on T and B cell numbers and antibody function to see if lower dosing gives the same immune benefit with fewer side effects. The trial is running at many transplant centers to enroll enough families and reach clear conclusions.
Why it matters
Potential benefit: If successful, this could allow infants to achieve full immune recovery with less chemotherapy exposure and fewer short- and long-term side effects.
How similar studies have gone: Earlier work under the CSIDE program showed promising results with low, targeted busulfan in SCID, but the randomized head-to-head comparison with moderate dosing is only now being completed and remains partly novel.
Where this research is happening
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National Marrow Donor Program
Minneapolis, United States Active
Researchers
- Principal investigator: Auletta, Jeffery J — National Marrow Donor Program
- Study coordinator: Auletta, Jeffery J
Related research
Other NIH-funded projects on the same topics.
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Optimizing busulfan dosing for infants with SCID undergoing stem cell transplant
This grant tests the safest busulfan dosing levels in infants with SCID to help achieve good T and B cell recovery after a stem cell transplant.
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Providing Pediatric Transplant Access and Personalized Conditioning for Children
A national program helps kids with life-threatening blood diseases access allogeneic hematopoietic cell transplantation and tailors pre-transplant chemotherapy to each child.
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Optimizing busulfan dosing for infants with SCID undergoing donor stem cell transplant
A study tests different busulfan doses in babies with SCID to see which helps transplant success and immune recovery.
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Choosing the right busulfan dose before transplant for infants with IL2RG, JAK3, or RAG1/2 SCID
This project compares two chemotherapy (busulfan) dosing strategies to help infants with certain genetic forms of SCID regain their immune cells after a stem cell transplant.
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Expanding access to bone marrow and cellular therapies for children with life‑threatening diseases
This program helps children with serious blood and genetic conditions get personalized bone marrow and cellular therapies through a network of transplant centers and trials.
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Access to clinical trials for children with life-threatening diseases through transplantation.
This study is all about making bone marrow transplants better for kids with blood diseases by using DNA tests to personalize their treatment and find the right chemotherapy dose just for them.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.