Actively Recruiting
Base Editing Hematopoietic Stem Cell and T Cell Gene Therapy for CD40L-HyperIgM Syndrome: Single Patient Study
Led by National Institute of Allergy and Infectious Diseases (NIAID) · Updated on 2026-03-27
1
Participants Needed
1
Research Sites
119 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Base Editing Hematopoietic Stem Cell and T Cell Gene Therapy for CD40L-HyperIgM Syndrome: Single Patient Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Signed informed consent form provided
- Willing to comply with all study procedures and available for study duration
- Male with CD40L Q220X mutation
- Defective class switching present
- Liver abnormalities including elevated transaminases
- Portal hypertension diagnosed
- Hepatology consult consensus to receive myeloid conditioning
- Able to take oral medication and willing to follow intervention regimen
- Use of effective contraception methods with partner
- Ability and willingness to understand and sign informed consent document
You will not qualify if you...
- Known allergic reaction to components of the base-edited stem cell or T cell products
- Febrile illness within two weeks prior to hospital admission for treatment
- Unwillingness to submit information for alemtuzumab distribution program or not qualified for alemtuzumab per program committee
- Co-enrollment in other trials restricted except for observational studies and specified NIH protocols without principal investigator approval
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
S
Suk S De Ravin, M.D.
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here