JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency
Trial statusRecruiting
Trial phasePhase 1, Phase 2
Trial typeInterventional
Biological sexAll
Age2-9
SponsorJaguar Gene Therapy, LLC
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Is male or female, and 2 to 9 years of age at the time of JAG201 administration
Has a molecular confirmation of a loss of function mutation in SHANK3 or a 22q13.3 deletion classified as a Class I deletion
Has evidence of developmental/cognitive delay of at least 2 standard deviations (SD) below the mean (i.e., ≤ 70) via either Intelligence Quotient (IQ) OR Developmental Quotient (DQ) assessment (as applicable)
Has an overall Phelan-McDermid Syndrome (PMS) Assessment of Severity (PMSA-S) Score of 3 or greater at Screening
Disqualifiers
Has history of developmental regression defined in this study as a prolonged loss of previously acquired skills (defined as skills maintained for at least 3 months) with loss of skills persisting for at least 3 months
Has known or suspected prion disease (e.g., Creutzfeldt-Jakob Disease)
Has poorly-controlled epilepsy (defined as an increase in the dose or addition of new anti-epileptic medications within the past 3 months) or any history of status epilepticus or seizure-induced hospitalizations within the last 12 months
Has history of acute cerebrovascular episodes
Trial design
Design model
Sequential
Treatments tested in this trial
JAG201
GeneticAdeno-associated virus 2/9 expressing a miniature version of the human SHANK3 gene (AAV2/9-miniSHANK3)
JAG201
GeneticAdeno-associated virus 2/9 expressing a miniature version of the human SHANK3 gene (AAV2/9-miniSHANK3)
Treatment groups
6 Participants
are divided into 2 treatment groupsGroup A: Pediatric Cohort 1Experimental treatment 0 interventions
Group B: Pediatric Cohort 2Experimental treatment 1 intervention
Trial outcomes
Primary outcomes
1
Incidence of Adverse Events (AEs)
Incidence, type, severity, and frequency of AEs
Time frame
Enrollment to Month 602
Incidence of Serious Adverse Events (SAEs)
Incidence, type, severity, and frequency of SAEs
Time frame
Enrollment to Month 603
Clinically significant abnormalities in laboratory values
Changes in clinically significant abnormalities in laboratory values
Time frame
Enrollment to Month 604
Incidence of immunogenicity response abnormalities
Incidence of anti-AAV9 antibodies, anti-transgene antibodies, and T-cell reactivity to transgene over time
Time frame
Enrollment to Month 60Secondary outcomes
1
Change from Baseline in SAND
To characterize the preliminary disease response to JAG201 by assessing the change from baseline in SAND (Sensory Assessment for Neurodevelopmental Disorders)
Time frame
Enrollment to Month 60Other outcomes
1
Change from baseline in Vineland Adaptive Behavior Scales
To characterize further the preliminary clinical activity of JAG201 by assessing change from baseline in Vineland Adaptive Behavior Scales, Third Edition
Time frame
Enrollment to Month 60Sponsors and contacts
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Source ClinicalTrials.gov