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

Plain Language Summary

Simplified for easier understanding

This early-phase trial evaluates a gene-editing therapy — delivered as a single injection into the spinal fluid — for children with Snijders Blok-Campeau syndrome, a rare developmental disorder caused by a specific mutation (R1025W) in the CHD3 gene, which affects brain development, language, and intellectual ability. The therapy uses a dual-vector AAV base editor designed to correct the genetic error at the DNA level. Children and young patients with a confirmed clinical and genetic diagnosis of Snijders Blok-Campeau syndrome who have the specific CHD3 mutation and normal liver, heart, immune, and clotting function may be eligible. Participation involves a single intrathecal (spinal) injection and follow-up assessments to monitor safety, tolerability, and any early signs of benefit. This summary was generated with AI assistance and is intended to help patients understand the study in plain language.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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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.