Actively Recruiting
An Open-label, Single Arm, Dose-Escalation Study Evaluating Safety, Tolerability, and Preliminary Efficacy of a Single Intracerebroventricular Injection of RB001 for SHANK3-related Phelan-McDermid Syndrome
Led by Peking University First Hospital · Updated on 2025-07-30
8
Participants Needed
1
Research Sites
34 weeks
Total Duration
On this page
Sponsors
P
Peking University First Hospital
Lead Sponsor
S
Shenzhen Reborngene Therapeutics Co., Ltd.
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are evaluating the safety, tolerability, and early effects of RB001, a gene therapy, in children with SHANK3-related Phelan-McDermid Syndrome (PMS), a rare neurodevelopmental disorder caused by genetic deletions or mutations affecting brain development. This condition leads to intellectual disability, severe language delays, autism-like behaviors, and other symptoms. The study aims to gather initial clinical data on a single dose of RB001 delivered directly into the brain's ventricles. The treatment involves a single intracerebroventricular injection of RB001, which uses a viral vector to deliver a corrected SHANK3 gene. The study plans to enroll about eight pediatric participants aged 3 to 18 years. Each participant will be involved in a 14-month study period including a 2-month screening, a 7-day hospital stay around the time of the injection, and a 12-month follow-up outpatient period to monitor effects and safety. Participants will undergo various assessments including clinical evaluations of autism severity, developmental scales, intelligence tests, and behavioral checklists over 52 weeks following treatment. Researchers will also monitor immune responses, viral presence in the body, and overall safety. The trial's goal is to assess how well patients tolerate the treatment and to observe any early signs of benefit or risks over one year after the injection.
CONDITIONS
Brief Title
RB001 Gene Therapy Study in Children With SHANK3-related Phelan McDermid Syndrome (PMS)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age 3 years and older but younger than 18 years at the time of informed consent, any gender
- Genetic test and clinical confirmation of SHANK3-related Phelan-McDermid Syndrome
- Diagnosis of moderate or more severe Autism Spectrum Disorder
- IQ score below 70 or Developmental Quotient average score below 70 (excluding gross motor)
- Willingness to provide required biological samples such as blood and urine
- Consent to hospitalization for brain injection surgery
- Parental or guardian consent with understanding and willingness to comply with study procedures
You will not qualify if you...
- Previous or current participation in other PMS drug trials or AAV gene therapy studies
- Known allergies to prednisone acetate, glucocorticosteroids, their excipients, or local anesthetics
- Status epilepticus within 3 months before enrollment
- Need for invasive or non-invasive ventilatory support
- Serum anti-AAV neutralizing antibody titer greater than 1:200
- Significant abnormal lab results including elevated liver enzymes, bilirubin, creatinine, low hemoglobin or platelets, prolonged clotting times, or high blood sugar
- Liver disease or history of heart disease posing drug-related risks
- Unsuitability for intracerebroventricular injection as assessed by investigator
- Positive tests for HIV, hepatitis B or C, syphilis, active TORCH virus, or Epstein-Barr virus infections
- Use of immunosuppressive medications within 90 days before administration or planned within 3 months after starting trial (except specified prophylactics)
- Other conditions judged unsuitable for participation by the investigator
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Screening and enrollment visit
Duration - 7 days
Participants receive a single intracerebroventricular injection of the study gene therapy RB001 and remain hospitalized for monitoring.
Inpatient visits from Day 1 (dosing) to Day 7
Duration - 12 months
Participants are monitored for safety, tolerability, and preliminary efficacy after treatment with RB001.
Regular outpatient visits throughout the 12 months
Trial Site Locations
Total: 1 location
1
Peking University First Hospital
Beijing, Beijing Municipality, China
Actively Recruiting
Research Team
D
Dongliang Li
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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