JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency

Launched by JAGUAR GENE THERAPY, LLC · Oct 25, 2024

Keywords

ClinConnect Summary

This clinical trial is studying a new gene therapy called JAG201 to see if it is safe and effective for children and adults with a condition known as SHANK3 haploinsufficiency, which is often linked to Phelan-McDermid Syndrome. The therapy will be given through an injection into the brain, and the researchers want to learn more about how well it works and if it causes any side effects. The study is currently looking for participants aged 2 to 9 years who have a specific genetic mutation or deletion that affects the SHANK3 gene and who show signs of developmental delays.

To qualify for the study, participants must have a confirmed genetic issue with SHANK3, as well as certain levels of developmental challenges. They should also be stable on any medications they are taking and willing to participate in structured therapies, like physical or speech therapy, during the trial. Participants will be monitored closely throughout the study to gather important information about their health and response to the treatment. If you're considering this trial, it's essential to discuss it with your healthcare provider to understand all the details and see if it’s the right fit.

Gender

ALL

Eligibility criteria

• Key Inclusion Criteria:
• • 1. Is male or female, and 2 to 9 years of age at the time of JAG201 administration
• • 2. Has a molecular confirmation of a loss of function mutation in SHANK3 or a 22q13.3 deletion classified as a Class I deletion
• • 3. 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)
• • 4. Has an overall Phelan-McDermid Syndrome (PMS)-specific Clinical Global Impression-Severity (CGI-S) Score of 3 or greater at Screening
• • 5. Willing to initiate structured therapies and continue for the duration of the study as determined by the specific therapist (structured therapies may include, at a minimum, physical therapy, occupational therapy, and speech therapy)
• • 6. Is stable on any medication regimens (if being administered to control the signs and symptoms of underlying disease) for at least 3 months prior to the planned JAG201 study treatment
• • 7. If undergoing any kind of behavioral or therapeutic intervention, then the level of intervention must have remained stable for at least 3 months prior to the planned JAG201 study treatment (exclusive of school vacations/illness).
• Key Exclusion Criteria:
• A pediatric participant who meets any of the following criteria will be excluded from this study:
• • 1. Has history of developmental regression defined as losing a skill previously maintained consistently for ≥ 3 months
• • 2. Has known or suspected prion disease (e.g., Creutzfeldt-Jakob Disease)
• • 3. 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
• • 4. Has history of acute cerebrovascular episodes
• • 5. Has active autoimmune disease or prior treatment with immunomodulatory therapy, immunotherapy, and/or immunosuppressive drugs within 3 months prior to study enrollment (Note: Inhaled or topical steroids are permitted in the absence of active autoimmune disease)
• • 6. Has infection (viral, bacterial, or fungal) that requires treatment \< 6 weeks before JAG201 administration (Note: JAG201 administration may be postponed until the infection has resolved and the participant is clinically stable)
• • 7. Has medical illness or other concern that would cause the Investigator to conclude that the participant will not be able to perform the study procedures or assessments or would confound interpretation of data obtained during assessments
• • 8. Has known allergy or hypersensitivity to prednisolone or other glucocorticosteroids, or their excipients
• • 9. Has received any vaccine \< 6 weeks before JAG201 administration
• • 10. Has received any gene therapy