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

NCT06860672 | Recruiting Early Phase 1 DMC

• 1 other identifier: XH-25-002
• Study Type: interventional
• Target: 1
• Locations: 1 country
• Sites: 1

Brief 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

Conditions

Developmental Delay Disorder; Intellectual Disability; Rare Diseases

Outcome Measures

Primary Outcomes (1)

• Incidence of drug-related serious adverse events

  0-26 weeks

Secondary Outcomes (2)

• Evaluate the changes using the Clinical Global impression Scale -Overall improvement (CGI-I)

  0-26 weeks

• Evaluate the changes in the Patient's Global Impressions of Improvement (PGI-I) scale

  0-26 weeks

Study Arms (1)

Dual vector treatment group

EXPERIMENTAL

Genetic: Dual vector DNA base editor

Interventions

Dual vector DNA base editor 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.

Dual vector treatment group

Eligibility Criteria

• Age: 2 Years - 10 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Yongguo Yu: lead

Study Sites (1)

Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine

Shanghai, Shanghai Municipality, 200092, China

RECRUITING

MeSH Terms

Conditions

Developmental Disabilities; Intellectual Disability; Rare Diseases

Condition Hierarchy (Ancestors)

Neurodevelopmental Disorders; Mental Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Disease Attributes; Pathologic Processes

Study Officials

• Yongguo Yu, Dr, MD, PhD

  Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

  PRINCIPAL INVESTIGATOR

• Zilong Qiu, PhD

  Shanghai Jiao Tong University School of Medicine Songjiang Research Institute

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Xiaomei Luo, Ms., Master

CONTACT

+86-25-25076466; luoxiaomei@shsmu.edu.cn

Study Design

• Study Type: interventional
• Phase: early phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Chief physician

Study Record Dates

• First Submitted: February 24, 2025
• First Posted: March 6, 2025
• Study Start: February 19, 2025
• Primary Completion: April 1, 2025
• Study Completion: September 1, 2025
• Last Updated: March 6, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)