Actively Recruiting
RB001 Gene Therapy Study in Children With SHANK3-related Phelan McDermid Syndrome (PMS)
Led by Peking University First Hospital · Updated on 2025-07-30
8
Participants Needed
1
Research Sites
132 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
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.
CONDITIONS
Official 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 or older and under 18 years at the time of informed consent, any gender
- Confirmed genetic and clinical diagnosis of SHANK3-related Phelan McDermid Syndrome
- Meets diagnostic criteria for moderate or more severe Autism Spectrum Disorder (ASD)
- Intelligence Quotient (IQ) score below 70 or Developmental Quotient (DQ) average score below 70 (excluding gross motor)
- Willing to provide biological samples such as blood or urine for the study
- Consent to hospitalization for intracerebroventricular injection surgery
- Parent or guardian able to understand and willing to follow study procedures and sign informed consent
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, other 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 such as elevated liver enzymes, high bilirubin, high creatinine, low hemoglobin, prolonged blood clotting times, high blood glucose or HbA1c, or low platelets
- History of liver disease or heart disease posing drug-related risks
- Unsuitable for intracerebroventricular administration as judged by investigator
- Positive tests for HIV, hepatitis B or C, syphilis, active TORCH virus infection, or active Epstein-Barr virus infection
- Use of certain immunosuppressive medications within 90 days before treatment or planned immunosuppressive treatment within 3 months after starting trial, except specified prophylactic drugs
- Other conditions considered unsuitable by the investigator
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Peking University First Hospital
Beijing, Beijing Municipality, China
Actively Recruiting
Research Team
D
Dongliang Li
CONTACT
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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