Gene editing tackles rare immune disease in first human test
NCT ID NCT06959771
First seen Jun 24, 2026 · Last updated Jul 31, 2026 · Updated 4 times
Summary
This study tests a one-time gene therapy for a single person with X-linked Hyper-IgM syndrome, a rare immune disorder caused by a faulty CD40L gene. The participant's own stem cells and T cells are collected, edited in a lab to fix the gene mutation, and then infused back after chemotherapy. The goal is to see if the treatment is safe and can restore immune function, reducing the risk of severe infections.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- Active substance
- base-edited stem cells and T cells
- What this could lead to
- If successful, this could point toward a one-time gene therapy that restores immune function and reduces infections in people with CD40L-HyperIgM syndrome.
- What could go wrong
- This is a very early, single-patient study, so results may not apply to others. The treatment requires strong chemotherapy and carries risks like infection, organ damage, or failure of the edited cells to work long-term.
This is an AI summary of the original study and may miss details. Read our disclaimer.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States