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

ConditionsDevelopmental Delay DisorderIntellectual DisabilityRare Diseases
Trial statusRecruiting
Trial phaseEarly Phase 1
Trial typeInterventional
Biological sexAll
Age2-10
SponsorYongguo Yu

About this trial

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 criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

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

Trial design

Design model

Single group

Treatments tested in this trial

  • 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.

Treatment groups

1 Participants
are divided into 1 treatment group
Group A: Dual vector treatment groupExperimental treatment 1 intervention

Trial outcomes

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)

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.

Time frame
0-26 weeks
2

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

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.

Time frame
0-26 weeks

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Yongguo Yu

Lead sponsor

Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Sponsor institution

Source ClinicalTrials.gov
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