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

Early Phase 1

Recruiting

• Conditions: Developmental Delay Disorder; Intellectual Disability; Rare Diseases

• Registration Number: NCT06860672
• Lead Sponsor: Yongguo Yu

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

Detailed Description

Not available

Study Timeline

• Study Start: 2025-02-19
• Study First Submitted: 2025-02-24
• Status Verified: 2025-03
• Study First Submitted QC: 2025-03-05
• Last Update Submitted: 2025-03-05
• Study First Posted: 2025-03-06
• Last Update Posted: 2025-03-06
• Primary Completion: 2025-04
• Study Completion: 2025-09

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Incidence of drug-related serious adverse events	0-26 weeks

Secondary Outcome Measures

Name	Time	Method
Evaluate the changes using the Clinical Global impression Scale -Overall improvement (CGI-I)	0-26 weeks	This 7-point scale (1 = very much improved, 7 = very much worse, etc.) is used by the clinician to assess the participant's overall performance status; higher scores indicate increased severity.
Evaluate the changes in the Patient's Global Impressions of Improvement (PGI-I) scale	0-26 weeks	This 7-point scale (1 = very much improved, 7 = very much worse, etc.) is used by the clinician to assess the participant's overall performance status; higher scores indicate increased severity.

Trial Locations

Locations (1)

Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine; 🇨🇳 Shanghai, Shanghai, China