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

Launched by YONGGUO YU · Mar 5, 2025

Keywords

ClinConnect Summary

This clinical trial is testing a new treatment for children and young adults with a specific genetic mutation (the CHD3-R1025W mutation) that can lead to developmental delays and intellectual disabilities. The researchers want to see if a single injection of a special treatment, called a dual vector base editor, is safe and if it can help improve symptoms related to this mutation. The trial is currently looking for participants aged between 2 and 10 years who have been diagnosed with Snijders Blok-Campeau syndrome and carry the specific mutation in their CHD3 gene.

To participate, individuals must have normal liver, heart, and immune function and not have certain health issues like brain tumors or unstable infections. If eligible, participants will receive the treatment through a lumbar puncture, which is a procedure where a small needle is inserted into the lower back to deliver the medication. Throughout the trial, the team will closely monitor participants for safety and any effects of the treatment. It's important to note that participants cannot be on other new treatments or have had previous gene therapy before joining this study. This trial aims to pave the way for new options for those affected by this rare genetic condition.

Gender

ALL

Eligibility criteria

• 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