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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

EARLY_PHASE1

Total Enrollment

1 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-02-19

Study Completion Date

2025-09-30

Brief Summary

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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

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Detailed Description

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Conditions

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Developmental Delay Disorder Intellectual Disability Rare Diseases

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Dual vector treatment group

Group Type EXPERIMENTAL

Dual vector DNA base editor

Intervention Type GENETIC

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.

Interventions

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Dual 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.

Intervention Type GENETIC

Eligibility Criteria

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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

Minimum Eligible Age

2 Years

Maximum Eligible Age

10 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No