Treatment for developmental disorders caused by a specific gene 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
This study is testing a new gene editing treatment to see if it can help people with developmental disorders caused by a specific mutation in the CHD3 gene.
Quick facts
| Phase | Early Phase 1 |
|---|---|
| Study type | Interventional |
| Enrollment | 1 (estimated) |
| Ages | 2 Years to 10 Years |
| Sex | All |
| Sponsor | Xinhua Hospital, Shanghai Jiao Tong University School of Medicine Academic / other |
| Locations | 1 site (Shanghai, Shanghai Municipality) |
| Trial ID | NCT06860672 on ClinicalTrials.gov |
What this trial studies
This clinical trial evaluates the safety, tolerability, and preliminary efficacy of a single intrathecal injection of a dual vector AAV-CHD3-R1025W base editor. It specifically targets patients with developmental disorders linked to the R1025W mutation in the CHD3 gene. The approach involves using a novel gene editing technique to potentially correct the underlying genetic defect. Participants will be monitored for their response to the treatment and any adverse effects.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals diagnosed with Snijders Blok-Campeau syndrome who carry the heterozygous R1025W mutation in the CHD3 gene.
Not a fit: Patients with brain tumors, severe systemic diseases, or those who have previously undergone gene therapy may not benefit from this study.
Why it matters
Potential benefit: If successful, this treatment could provide a new therapeutic option for patients with developmental disorders caused by the CHD3-R1025W mutation.
How similar studies have performed: While gene editing approaches are being explored in various contexts, this specific application targeting the CHD3-R1025W mutation is novel and has not been extensively tested in prior studies.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Shanghai, Shanghai Municipality
- Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine — Shanghai, Shanghai Municipality, China (Recruiting)
Study contacts
- Principal investigator: Yongguo Yu, Dr, MD, PhD — Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
- Study coordinator: Xiaomei Luo, Ms., Master
- Email: luoxiaomei@shsmu.edu.cn
- Phone: +86-25-25076466
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.