Gene editing tackles rare immune disease in first human test
NCT ID NCT06959771
First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time
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.
Disclaimer
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This is a summary of
the original study
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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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
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••