What is JAG201 studying for SHANK3 haploinsufficiency?

JAG201 is being studied as a gene therapy for SHANK3 haploinsufficiency, a rare genetic condition affecting development. Researchers aim to understand how a single dose of this therapy delivered directly into the brain may impact safety, tolerability, and clinical activity. The study is sponsored by Jaguar Gene Therapy, LLC and focuses first on children aged 2 to 9 years.

Who may be eligible for this SHANK3 haploinsufficiency clinical trial?

Children aged 2 to 9 years with confirmed SHANK3 loss of function mutations or specific chromosomal deletions may be eligible. Participants must show developmental delays and be stable on any medications or therapies for at least 3 months. Both males and females can participate. Please review eligibility criteria for more details.

Is there any cost to participate in this SHANK3 haploinsufficiency clinical trial?

Study-related care, including the gene therapy and all trial visits, is provided at no cost. However, personal travel expenses may vary and are not guaranteed to be covered. Participants can expect to receive the treatment and follow-up assessments without charge.

Actively Recruiting

Phase 1

Phase 2

Age: 2Years - 9Years

All Genders

ID06662188

Phase 12 Study of JAG201 Gene Therapy Given by Brain Injection in Children Aged 2 to 9 With SHANK3 Haploinsufficiency

Led by Jaguar Gene Therapy, LLC · Updated on 2026-02-09

Participants Needed

Research Sites

156 weeks

Total Duration

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 12 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 brains 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 therapys 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

Age: 2Years - 9Years

All Genders

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

Research Team

Jaguar Gene Therapy

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