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

ConditionsDevelopmental Delay Disorder Intellectual Disability Rare 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

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

Treatments tested in this trial

Dual vector DNA base editor

Treatment groups

1 Participants

are divided into 1 treatment group

Sponsors and collaborators

Yongguo Yu

Lead sponsor

Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Sponsor institution

Source ClinicalTrials.gov