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

Yongguo Yu

Status and phase: Enrolling; Early Phase 1

Conditions: Developmental Delay Disorder; Rare Diseases; Intellectual Disability

Treatments: Genetic: Dual vector DNA base editor

Study type: Interventional

Funder types: Other

Identifiers

NCT06860672

XH-25-002

Details and patient eligibility

About

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

Enrollment: 1 estimated patient

Sex: All

Ages: 2 to 10 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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1 participants in 1 patient group

Dual vector treatment group

Experimental group

Treatment:

Genetic: Dual vector DNA base editor