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Base Editing Hematopoietic Stem Cell and T Cell Gene Therapy for CD40L-HyperIgM Syndrome: Single Patient Study
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID)
Summary
Background: X-linked hyper-IgM (HIGM) syndrome is caused by a mutation in the CD40 ligand (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. Researchers want to know if these base-edited stem cells and T cells can help people with CD40L-HIGM syndrome. Objective: To test base-edited stem cells and base-edited T cells in 1 person with CD40L-HIGM syndrome. Eligibility: A single male with CD40L-HIGM syndrome. Design: A single participant is planned to receive a single dose of edited stem cells and supportive treatment with edited T cells. Participant stem and T cells will undergo base editing to repair the mutation. In preparation for the gene therapy, the participant will receive busulfan chemotherapy and alemtuzumab. After treatment, the participant will have follow-up visits every few months in the first 2 years after treatment. Long-term visits will continue annually for 15 years.
Official title: Base Editing Hematopoietic Stem Cell and BE T Cell Gene Therapy for CD40L-HyperIgM Syndrome-Single Patient Study
Key Details
Gender
MALE
Age Range
37 Years - 120 Years
Study Type
INTERVENTIONAL
Enrollment
1
Start Date
2025-07-16
Completion Date
2027-10-28
Last Updated
2026-03-27
Healthy Volunteers
No
Conditions
Interventions
Base-edited hematopoietic stem and progenitor cells
The study cell product is base edited autologous HSPCs which will be administered as a one-time infusion following myeloid conditioning.
Alemtuzumab
Serotherapy agent, 10 mg/m\^2 on days -21, -20 and -19
Sirolimus
Immunophilin drug, will start on day -1, targeting a trough level between 4-12 ng/mL.
Palifermin
Mucositis prophylaxis agent, will be administered at 60 mcg/kg/day for 3 days before initiation of busulfan (days -6 to -4), as well as for the 3 days following study agent administration (days 1 to 3).
Busulfan
Myeloid conditioning agent, administered once daily (3 mg/kg) x 2 days, targeting a daily AUC of 4500 micromol\*min/L or a cumulative AUC of 9000 micromol\*min/L for the 2 days of therapy, if levels are available
Base-edited T lymphocyte cells
The secondary study cell product is base edited autologous which will be administered as a one-time infusion two weeks following the infusion of the base-edited autologous HSPCs.
Locations (1)
National Institutes of Health Clinical Center
Bethesda, Maryland, United States