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Recruiting EARLY_Phase 1 NCT06860672

NCT06860672 Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation

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Clinical Trial Summary
NCT ID NCT06860672
Status Recruiting
Phase EARLY_Phase 1
Sponsor Yongguo Yu
Condition Developmental Delay Disorder
Study Type INTERVENTIONAL
Enrollment 1 participants
Start Date 2025-02-19
Primary Completion 2025-04

Eligibility & Interventions

Sex All sexes
Min Age 2 Years
Max Age 10 Years
Study Type INTERVENTIONAL
Interventions
Dual vector DNA base editor

Eligibility Fast-Check

Enter your details for a quick preliminary check. This does not replace medical advice.

What to Expect as a Participant

You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.

Phase 1 is the earliest stage of human testing — safety and dosage are the primary focus. Visits are frequent and medical supervision is intensive. You will be among the first people to receive this treatment.

This trial targets 1 participants in total. It began in 2025-02-19 with a primary completion date of 2025-04.

⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.

Brief 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

Eligibility Criteria

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

Contact & Investigator

Central Contact

Xiaomei Luo, Ms., Master

✉ luoxiaomei@shsmu.edu.cn

📞 +86-25-25076466

Principal Investigator

Yongguo Yu, Dr, MD, PhD

PRINCIPAL INVESTIGATOR

Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Frequently Asked Questions

Who can join the NCT06860672 clinical trial?

This trial is open to participants of all sexes, aged 2 Years or older, up to 10 Years, studying Developmental Delay Disorder. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.

What phase is the NCT06860672 trial and what does that mean for participants?

Phase 1 trials are the first stage of human testing. The primary goal is to assess safety and determine appropriate dosage levels. Participants are closely monitored. These trials typically involve a small number of volunteers.

Is NCT06860672 currently recruiting?

Yes, NCT06860672 is actively recruiting participants. Contact the research team at luoxiaomei@shsmu.edu.cn for enrollment information.

Where is the NCT06860672 trial being conducted?

This trial is being conducted at Shanghai, China.

Who is sponsoring the NCT06860672 clinical trial?

NCT06860672 is sponsored by Yongguo Yu. The principal investigator is Yongguo Yu, Dr, MD, PhD at Xinhua Hospital, Shanghai Jiao Tong University School of Medicine. The trial plans to enroll 1 participants.

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