RecruitingEarly Phase 1NCT06860672

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

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

Sponsor

Yongguo Yu

Enrollment

1 participants

Start Date

Feb 19, 2025

Study Type

INTERVENTIONAL

Conditions

Rare Diseases Intellectual Disability Developmental Delay Disorder

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

Min Age: 2 YearsMax Age: 10 Years

Inclusion Criteria4

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 Criteria9

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

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Interventions

GENETICDual vector DNA base editor

The base editor is delivered using a dual vector adeno-associated virus (AAV) system and introduced into the child via intrathecal injection to correct the mutated CHD3 gene. The vital signs of the child will be closely monitored during treatment to assess possible acute adverse effects. The child will be followed up regularly after treatment to monitor the success of gene editing and the neurodevelopmental improvement of the child. Possible long-term adverse events will be closely monitored to assess the safety of the treatment.