Actively Recruiting
JAG201 Gene Therapy Phase 1/2 Study via Intracerebroventricular Injection in Children With SHANK3 Haploinsufficiency
Led by Jaguar Gene Therapy, LLC · Updated on 2026-02-09
6
Participants Needed
3
Research Sites
156 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are evaluating the safety, tolerability, and clinical effects of a gene therapy called JAG201 in children and adults who have SHANK3 haploinsufficiency caused by certain genetic mutations or deletions. This early phase 1/2 study focuses on pediatric participants first and aims to gather initial data on how this treatment works and its potential effects. The study is open-label and involves a single dose of gene therapy delivered directly into the brain's ventricles. Participants will receive one dose of JAG201 through intracerebroventricular injection on Day 1 after eligibility screening. The study includes two pediatric groups receiving different doses, with a total target of six children aged 2 to 9 years. Following treatment, participants stay in the hospital for close monitoring. The study consists of several phases: pre-screening and screening, administration and perioperative care, initial follow-up up to two years, and long-term follow-up lasting five years. During the study, participants will have regular visits to assess safety, clinical responses, and any side effects. Researchers will monitor for adverse events, laboratory abnormalities, and immune responses over five years. They will also assess changes in developmental and cognitive measures using specific tests. This long-term monitoring ensures careful observation of the gene therapy's effects and participant well-being throughout the study period.
CONDITIONS
Brief Title
JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male or female aged 2 to 9 years at time of JAG201 administration
- Molecular confirmation of SHANK3 loss of function mutation or 22q13.3 deletion classified as Class I
- Developmental or cognitive delay at least 2 standard deviations below the mean (IQ or DQ ≤ 70)
- Phelan-McDermid Syndrome Assessment of Severity (PMSA-S) score of 3 or greater at screening
- Willing to start and continue structured therapies such as physical, occupational, speech therapy, or applied behavior analysis for the study duration
- Stable medication regimen for at least 3 months before treatment
- Stable behavioral or therapeutic interventions for at least 3 months before treatment (excluding school vacations/illness)
- Permanent legal resident within the continental U.S.
You will not qualify if you...
- History of developmental regression with loss of skills persisting at least 3 months
- Known or suspected prion disease such as Creutzfeldt-Jakob Disease
- Poorly-controlled epilepsy or history of status epilepticus or seizure-related hospitalizations in last 12 months
- History of acute cerebrovascular episodes
- Active autoimmune disease or recent immunomodulatory/immunosuppressive treatment within 3 months (inhaled or topical steroids allowed if no active autoimmune disease)
- Infection requiring treatment within 6 weeks before JAG201 administration
- Medical illness or condition interfering with study procedures or data interpretation
- Known allergy or hypersensitivity to prednisolone, glucocorticosteroids, or their excipients
- Receipt of any vaccine within 6 weeks before JAG201 administration
- Previous gene therapy treatment
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - Up to 3 months
Participants are screened for eligibility to participate in the trial.
1 screening and enrollment visit
Duration - Day 1 and immediate post-injection period
Participants receive a one-time intracerebroventricular injection of JAG201 and are monitored closely in a hospital setting for safety.
1 in-person treatment and perioperative monitoring visit
Duration - Up to 2 years
Participants return at regularly scheduled intervals for safety and clinical activity assessments.
Regularly scheduled visits over 2 years
Duration - Up to 5 years
Participants continue in the study for safety and tolerability monitoring through Year 5 after treatment.
Periodic visits over Years 3 to 5
Trial Site Locations
Total: 3 locations
1
Rush University
Chicago, Illinois, United States, 60612
Actively Recruiting
2
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
3
Seaver Autism Center at Mount Sinai
New York, New York, United States, 10029
Actively Recruiting
Research Team
J
Jaguar Gene Therapy
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
SEQUENTIAL
Primary Purpose
TREATMENT
Number of Arms
2
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