RB001 Gene Therapy Study in Children With SHANK3-related Phelan McDermid Syndrome (PMS)
An Open-label, Single Arm, Dose-Escalation Clinical Study to Evaluating the Safety, Tolerability and Preliminary Efficacy of a Single Intracerebroventricular Injection of RB001 for the Treatment of SHANK3-related Phelan McDermid Syndrome.
Peking University First Hospital
8 participants
Jun 16, 2025
INTERVENTIONAL
Conditions
Summary
This is a first in human, open-label, dose-escalation study to evaluate the safety, tolerability, and clinical activity of a single dose of RB001 administered via intracerebroventricular (ICV) injection in pediatric with SHANK3 related Phelan-McDermid Syndrome. Clinical data will be evaluated for safety, tolerability, and preliminary efficacy of RB001 in participants with SHANK3 related PMS.
Eligibility
Inclusion Criteria7
- Age ≥3 years and \<18 years (at the time of signing informed consent), any gender
- Genetic test and clinical confirmed diagnosis of SHANK3-related PMS
- Meets diagnostic criteria for moderate or more severe Autism Spectrum Disorder (ASD)
- Intelligence Quotient (IQ) score \<70 or Developmental Quotient (DQ) (excluding gross motor) average score \<70
- Willing to provide biological samples required for the study (e.g., blood, urine)
- Consent to hospitalization for intracerebroventricular injection surgery
- The holders of parental authority who are able to understand and willing to comply with study requirements and procedures, voluntarily participating and signing the informed consent
Exclusion Criteria12
- A pediatric participant who meets any of the following criteria will be excluded from this study:
- Previous or current participation in other PMS drug clinical trials or other AAV gene therapy clinical studies
- Has known allergic constitution, including allergy or hypersensitivity to prednisone acetate, other glucocorticosteroids, their excipients, or local anesthetics
- Subjects with status epilepticus within 3 months prior to enrollment
- Subjects requiring invasive or non-invasive ventilatory support
- Serum anti-AAV neutralizing antibody titer \>1:200
- Significant laboratory abnormalities: alanine aminotransferase (ALT), aspartate aminotransferase (AST), γ-glutamyl transferase (GGT) with any value above the upper limit of normal; total bilirubin above the upper limit of normal; creatinine ≥159 μmol/L; hemoglobin (Hb) \<80 g/L; prothrombin time (PT) prolonged by ≥3 seconds; activated partial thromboplastin time (APTT) prolonged by ≥10 seconds; fasting blood glucose ≥7.0 mmol/L; glycated hemoglobin (HbA1c) ≥6.5%; platelets (PLT) \<100×10\^9/L
- Subjects with liver disease or history of heart disease that may pose drug-related risks as assessed by the investigator
- Subjects deemed unsuitable for intracerebroventricular administration or with other special circumstances as assessed by the investigator
- Positive for human immunodeficiency virus antibody, hepatitis B surface antigen, hepatitis C antibody, syphilis antibody, active TORCH virus infection, or active Epstein-Barr virus infection
- Concomitant use of any of the following medications within 90 days prior to administration, or planned immunosuppressive treatment within 3 months after starting the trial, except for prophylactic medications specified in the protocol (cyclosporine, tacrolimus, methotrexate, cyclophosphamide, intravenous immunoglobulin, rituximab, etc. )
- Other conditions deemed unsuitable for participation in this study by the investigator
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Interventions
The study will enroll up to 2 cohorts, evaluating a starting dose plus a higher or lower dose
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT07014020