Gene therapy for CD40L deficiency (Hyper-IgM syndrome) - single patient study
Treatments studied
Part of Immune system & allergy clinical trials.
This trial tests a new gene therapy that uses a person's own blood stem cells and T cells, which are corrected with a gene-editing tool called base editing. It is designed for people with a specific CD40L gene mutation who also have liver problems and portal hypertension. The goal is to see if this treatment can improve their immune system and liver health.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must have a specific CD40L gene mutation, called Q220X.
- You must have problems with your immune system's ability to switch antibody types (defective class switching).
- You must have signs of liver damage (high liver enzymes) and a condition called portal hypertension.
- You must have a liver specialist agree that it is safe for you to receive bone marrow treatment (myeloid conditioning).
- You must be able to take oral medicine and follow the study plan.
- You must not have a fever within two weeks before hospital admission for treatment.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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