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NCT Number: NCT06860672

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

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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Key information

Conditions

Developmental Delay Disorder Developmental Disabilities Disease Attributes Intellectual Disability Mental Disorders Nervous System Diseases Neurobehavioral Manifestations Neurodevelopmental Disorders Neurologic Manifestations Pathologic Processes Pathological Conditions, Signs and Symptoms Rare Diseases Signs and Symptoms

Age range

2 year–10 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Early Phase 1

Primary location

Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine

Shanghai, Shanghai Municipality, 200092, China

Location status: Recruiting

Location contact

Xiaomei Luo, Master

CONTACT

[email protected]

+86-21-25076466

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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.

Primary outcomes

  1. Incidence of drug-related serious adverse events

    Time frame: 0-26 weeks

Secondary outcomes

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

    Time frame: 0-26 weeks

    This 7-point scale (1 = very much improved, 7 = very much worse, etc.) is used by the clinician to assess the participant's overall performance status; higher scores indicate increased severity.

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

    Time frame: 0-26 weeks

    This 7-point scale (1 = very much improved, 7 = very much worse, etc.) is used by the clinician to assess the participant's overall performance status; higher scores indicate increased severity.

Study contacts

Contact information is provided by the study sponsor or research team.

Xiaomei Luo, Ms., Master

CONTACT

[email protected]

+86-25-25076466

Sponsors and collaborators

Lead sponsor

Yongguo Yu

Other

Registry information

Official study title

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

Important dates

Study start
2025
Primary completion
2025
Study completion
2025
First posted
Mar 6, 2025
Registry last updated
Mar 6, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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