Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation (NCT06860672) | Clinical Trial Compass
TerminatedEarly Phase 1
Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
Stopped: The single participant died on 31 March 2025 from thrombotic microangiopathy, a serious adverse event assessed as definitely related to the study drug. Planned follow-up was not completed, and the study was terminated.
China1 participantsStarted 2025-02-19
Plain-language summary
To evaluate the safety, tolerability and preliminary efficacy study of a single intrathecal injection of the dual vector AAV-CHD3-R1025W base editor for the treatment of developmental disorders caused by the R1025W mutation in the CHD3 gene
Who can participate
Age range
2 Years – 10 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.