Background: X-linked Hyper IgM (HIGM) syndrome is caused by a mutation in the CD40L gene. People with this disease have white blood cells that do not work properly. These people are at risk of severe infections and autoimmune diseases. Stem cell transplant can cure this disease. However, transplanting stem cells donated by other people can have serious complications. Another approach is gene therapy; this treatment repairs the mutation in a person's own stem cells by base editing. Researchers want to know if these base-edited stem cells can help people with CD40L-HIGM syndrome. Objective: To test base-edited stem cell transplant in 1 person with CD40L-HIGM syndrome. Eligibility: A male with CD40L-HIGM syndrome. Design: Participant will be screened. Tests will include medically indicated imaging scans, blood tests, and a sample of tissue and fluid (biopsy) may be taken from the bone marrow. Participant may undergo apheresis to collect stem cells. The collected stem cells will undergo base editing to repair the mutation. For treatment, participant will be admitted to the hospital for 5 weeks or more. For 2 weeks he will receive drugs to prepare his body for receiving the stem cells. After receiving the edited stem cells, he will remain in the hospital until his cell counts recover. Participant will have follow-up visits every few months in the first 2 years after treatment. The bone marrow biopsy will be repeated after 2 years. Long-term visits will continue annually for 15 years....
Background: X-linked Hyper IgM (HIGM) syndrome is caused by a mutation in the CD40L gene. People with this disease have white blood cells that do not work properly. These people are at risk of severe infections and autoimmune diseases. Stem cell transplant can cure this disease. However, transplanting stem cells donated by other people can have serious complications. Another approach is gene therapy; this treatment repairs the mutation in a person's own stem cells by base editing. Researchers want to know if these base-edited stem cells can help people with CD40L-HIGM syndrome. Objective: To test base-edited stem cell transplant in 1 person with CD40L-HIGM syndrome. Eligibility: A male with CD40L-HIGM syndrome. Design: Participant will be screened. Tests will include medically indicated imaging scans, blood tests, and a sample of tissue and fluid (biopsy) may be taken from the bone marrow. Participant may undergo apheresis to collect stem cells. The collected stem cells will undergo base editing to repair the mutation. For treatment, participant will be admitted to the hospital for 5 weeks or more. For 2 weeks he will receive drugs to prepare his body for receiving the stem cells. After receiving the edited stem cells, he will remain in the hospital until his cell counts recover. Participant will have follow-up visits every few months in the first 2 years after treatment. The bone marrow biopsy will be repeated after 2 years. Long-term visits will continue annually for 15 years....
Base Editing Hematopoietic Stem Cell Gene Therapy for CD40L-HyperIgM Syndrome: Single Patient Study
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National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
For general information about clinical research, read Learn About Studies.
37 Years to 120 Years
MALE
No
National Institute of Allergy and Infectious Diseases (NIAID),
Suk S De Ravin, M.D., PRINCIPAL_INVESTIGATOR, National Institute of Allergy and Infectious Diseases (NIAID)
2027-10-28