One-shot gene editor aims to correct a brain disorder at its source

NCT ID NCT06860672

First seen Jul 30, 2026 · Last updated Jul 31, 2026 · Updated 1 time

Summary

This trial tests whether a single injection of a gene-editing tool can safely correct a specific mutation in the CHD3 gene that causes Snijders Blok-Campeau syndrome, a condition marked by developmental delay and intellectual disability. The gene editor is delivered directly into the spinal fluid using a harmless virus. One child with the exact R1025W mutation will receive the treatment and be closely monitored for side effects and any signs of developmental improvement.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance
a dual vector AAV base editor delivered as a single intrathecal injection to correct the CHD3 R1025W mutation
What this could lead to
If successful, this could point toward a one-time genetic cure for a severe developmental disorder caused by a specific CHD3 mutation.
What could go wrong
This is an extremely early, first-in-human trial with only one participant. The gene editing may not work as intended, and there are risks from the injection and the viral vector, including immune reactions or unintended genetic changes.

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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

  • Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine

    Shanghai, Shanghai Municipality, 200092, China

More trials for these conditions

Other studies related to the condition(s) this trial covers.