Matched Related and Unrelated Donor Stem Cell Transplantation for Severe Combined Immune Deficiency (SCID): Busulfan-based Conditioning With h-ATG, Radiation, and Sirolimus

• Status: Enrolling by invitation
• Trial end date: 2026-09-09

Summary

Background:

Severe combined immune deficiency (SCID) is a group of conditions where the immune system does not work properly. The only cure for most SCIDs is a stem cell transplant (getting cells from a donor). These transplants can have serious complications. Before the transplant, people often get high doses of drugs and radiation to prepare the body to accept the cells from the donor. Researchers want to see if low doses of drugs alone without radiation work just as well as low doses of drugs with radiation for SCID patients getting stem cell transplants.

Objective:

To test a set of drugs with or without radiation given before a stem cell transplant.

Eligibility:

People ages 3-40 who have SCID and who have a stem cell donor - either related or unrelated.

Design:

Participants will be admitted to the hospital 10 days before transplant. They will undergo:

medical history

medication review

physical exam

blood and urine tests (may include a 24-hour urine collection)

heart, lung, and breathing tests

imaging scans

bone marrow sample

nutrition assessment

dental exam

eye exam

meeting with a social worker.

Participants will get a plastic port called a central line. It is a hollow tube that is placed in the upper chest. It will be used to give medicines and take blood.

All participants will take chemotherapy drugs. Some will get radiation.

Participants will have a stem cell transplant. They will get the cells as an infusion through their central line. They will stay in the hospital for 30 days after transplant.

Participants must stay within 1 hour of NIH for 3 months after transplant. During this time, they will have follow-up visits at NIH at least once a week. Then they will have follow-up visits once or twice a year for 5-6 years.

• Phase: Phase 1/Phase 2

Details

• Lead Sponsor: National Institute of Allergy and Infectious Diseases (NIAID)
• Treatments: Busulfan; Sirolimus