NCT06662188

JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency

A Phase 1/2, Multicenter, Open-Label, Dose-Escalation, Safety, Tolerability, and Clinical Activity Study of a Single Dose of JAG201 Gene Therapy Delivered Via Intracerebroventricular Administration in Participants With SHANK3 Haploinsufficiency

• Status: Recruiting
• Phase: Phase 1 / Phase 2
• Study type: Interventional
• Enrollment: 6 (estimated)
• Sponsor: Jaguar Gene Therapy, LLC · Industry
• Sex: All
• Age: 2 Years – 9 Years
• Healthy volunteers: Not accepted

Summary

This is a Phase 1/2, first in human, open-label, dose-escalation study to evaluate the safety, tolerability, and clinical activity of a single dose of JAG201 administered via intracerebroventricular (ICV) injection in pediatric and adult participants with SHANK3 haploinsufficiency resulting from SHANK3 loss of function mutations and chromosomal deletions encompassing the SHANK3 gene. Clinical data will be evaluated for safety, tolerability, and preliminary clinical activity of JAG201 in pediatric and adult participants with SHANK3 haploinsufficiency. The pediatric cohorts will start enrolling first and the enrollment for adult cohorts may be initiated at a later timepoint in the study.

Detailed description

A target of 6 pediatric participants aged 2 to 9 years will be treated in Cohorts 1 and 2. In total, all participants will be followed for safety and tolerability for at least 5 years after the date of treatment with JAG201. The study will include 5 periods: Pre-Screening, Screening, Gene Therapy Administration and Perioperative Management, Initial Follow-Up, and Long-Term Follow-Up. Study participants will be evaluated for treatment eligibility during the Pre-Screening and Screening Periods. The Pre-Screening/Screening Period may be up to 90 days before treatment with JAG201 (Day 1). On Day 1, treatment-eligible participants will receive a one-time ICV injection of JAG201. Participant safety will be monitored closely after JAG201 administration in a hospital setting. During the Initial Follow-Up Period, up to Year 2, participants will return at regularly scheduled intervals for safety and clinical activity assessments. Participants will continue the study in the Long-Term Follow-Up Period through Year 5.

Conditions

• SHANK3 Haploinsufficiency
• Phelan-McDermid Syndrome

Interventions

Type	Name	Description
GENETIC	JAG201	Adeno-associated virus 2/9 expressing a miniature version of the human SHANK3 gene (AAV2/9-miniSHANK3)
GENETIC	JAG201	Adeno-associated virus 2/9 expressing a miniature version of the human SHANK3 gene (AAV2/9-miniSHANK3)

Timeline

• Start date: 2024-01-07
• Primary completion: 2028-06-01
• Completion: 2031-06-01
• First posted: 2024-10-28
• Last updated: 2026-02-09

Locations

3 sites across 1 country: United States

Regulatory

• FDA-regulated drug study