Clinical-stage biotechnology company Jaguar Gene Therapy has completed dosing in Cohort I of its first-in-human clinical trial investigating JAG201 for patients with SHANK3 haploinsufficiency, a leading genetic cause of an autism spectrum disorder known as Phelan-McDermid syndrome.
The open-label, dose-escalation, multi-centre study is assessing the safety, tolerability and clinical activity of JAG201.
Go deeper with GlobalData
Discover B2B Marketing That Performs
Combine business intelligence and editorial excellence to reach engaged professionals across 36 leading media platforms.
The trial has progressed to Cohort II, with two patients already dosed. Jaguar expects to complete enrolment and dosing in Cohort II by Q2 2026.
There have been no reports of treatment-related serious adverse events or dose-limiting toxicities so far.
Early signs of clinical benefits have been observed in various neurodevelopmental areas, including motor skills, cognitive abilities, social interactions, and communication functions.
SHANK3 haploinsufficiency arises when a gene copy is deleted or contains a pathogenic variant, reducing protein production necessary for healthy brain function. This condition is a prominent monogenic cause of autism spectrum disorder and is clinically diagnosed as Phelan-McDermid syndrome.
US Tariffs are shifting - will you react or anticipate?
Don’t let policy changes catch you off guard. Stay proactive with real-time data and expert analysis.
By GlobalDataJAG201 is a one-time gene replacement therapy that uses an adeno-associated virus serotype nine (AAV9) vector to deliver a functional SHANK3 minigene directly to neurons in the central nervous system.
The therapy is administered through a unilateral intracerebroventricular injection and aims to restore the synaptic function necessary for neurodevelopment and the preservation of essential abilities.
The programme has an exclusive licence from the Broad Institute of the Massachusetts Institute of Technology (MIT) and Harvard University.
The study is being conducted at several locations, including Boston Children’s Hospital, Rush University in Chicago, and the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai in New York City. More sites are expected to be added in the future.
Jaguar Gene Therapy appreciates the support from the CureSHANK and Phelan-McDermid Syndrome Foundation advocacy groups.
JAG201 has received the US Food and Drug Administration (FDA) rare paediatric disease designation. This designation enables eligibility for a priority review voucher upon approval of products targeting serious, rare paediatric diseases.
Jaguar Gene Therapy CEO Joe Nolan said: “Having dosed the first five patients with JAG201 is a significant milestone for our company, and most importantly, the Phelan-McDermid syndrome community, as this is the first gene therapy to be clinically evaluated for treating SHANK3 haploinsufficiency, a leading monogenic cause of autism.
“We are grateful for our continued partnerships with leading clinicians and advocacy organisations to bring forward a potentially transformative gene therapy treatment option for a devastating disease with such high unmet need.”
