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

NCT ID NCT06860672

Cure Sponsor: Yongguo Yu Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early This study
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Early phase 1

The earliest testing in people: a first look at safety, in a very small group.

Participants

1 person

The number who actually took part.

Started

Feb 2025

Finished

Mar 2025

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

2 to 10 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Clinical diagnosis of Snijders Blok-Campeau syndrome * Heterozygous mutation of c.3073C\>T, p.(Arg1025Trp) in the CHD3 gene * Normal liver, heart and immune function * Normal coagulation and platelet counts Exclusion Criteria: * Brain tumor or intracranial space-occupying lesion * Contraindications to administration of lumbar puncture or sheath injection administration * Persistent status epilepticus or recurrent epileptic control instability * Presence of unstable systemic disease including active bacterial, fungal or HIV, hepatitis A, hepatitis B infection * Serum anti-AAV neutralizing antibody titer \>1:50 (ELISA immunoassay) * Treatment with immunological agents other than protocol-specified prophylaxis within 3 months * Prior gene therapy * Participation in another clinical trial, or treatment with another investigational product within 30 days or 5 half-lives * Known allergy to any investigational product

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Conditions

The condition(s) this trial relates to.

developmental disability intellectual disability Rare Diseases Snijders Blok-Campeau syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Developmental delay (disorder) Intellectual disability Rare diseases

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.