Overview

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

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