Choosing the right busulfan dose before transplant for infants with IL2RG, JAK3, or RAG1/2 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-11378897 · Data updated 2026-11-12
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.
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 |
| NIH project number | 3U01AI184132-02S1 |
| Project ID | NIH-11378897 on NIH RePORTER |
Who could benefit from this research
✓Could help
Infants with severe combined immunodeficiency caused by IL2RG, JAK3, RAG1, or RAG2 mutations who are candidates for allogeneic hematopoietic cell transplantation are the intended participants.
✕Less likely to help
Children with other causes of immune deficiency, older patients, or those receiving gene therapy instead of transplant are unlikely to benefit from this specific protocol.
What this research studies
You would join a randomized program that gives infants one of two total busulfan exposure levels (cAUC 30 mg*h/L versus 60 mg*h/L) before an allogeneic stem cell transplant. Children with IL2RG or JAK3 mutations receive rabbit ATG, while those with RAG1/2 mutations receive rabbit ATG plus fludarabine and thiotepa as part of their preparative plan. Stem cells can come from unrelated donors or haploidentical (partially matched) family members, and the effort builds on an earlier CSIDE protocol. The goal is to see whether lower, individualized busulfan can allow both T and B cell recovery with less toxicity, and more than 50 transplant centers are open to enroll patients.
Why it matters
Potential benefit: If successful, this approach could let infants regain both T and B cell immunity with less chemotherapy-related toxicity.
How similar studies have gone: Previous non-randomized work showed T cell recovery without high-dose busulfan but inconsistent B cell outcomes, and this randomized follow-up builds on that earlier CSIDE experience.
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
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.