Florian Eichler, MD, on How Novel Gene Therapy Delivery Improved Targeting in GM2 Gangliosidosis


The director of the leukodystrophy service at Mass Gen discussed the phase 1/2 study of AXO-AAV-GM2.

“The fact that we're getting across the blood brain barrier through the direct injection into cerebrospinal fluid and brain has helped us to, for the first time, show enzyme expression and reduction of gangliosides in the brain... so that's been a milestone."

AXO-AAV-GM2 gene therapy delivered via a combination of bithalamic, intra-cisterna magna (ICM) and intrathecal (IT) methods has been found to be well-tolerated with MRI evidence of accurate bithalamic targeting in all 5 participants with GM2 gangliosidosis dosed so far.

These data, from a phase 1/2 trial (NCT04669535) sponsored by Sio Gene Therapies and conducted at Massachusetts General Hospital and Worcester General Hospital, were presented at the 2022 American Society of Gene and Cell Therapy Annual Meeting, May 16-19, 2022, in Washington DC, by Florian Eichler, MD, assistant professor of neurology, Harvard Medical School, and director, leukodystrophy service, Massachusetts General Hospital.

CGTLive spoke with Eichler during the meeting to learn more about the advantages of the AXO-AAV-GM2 gene therapy and the challenges in treating GM2 gangliosidosis. He also discussed specific advantages of the novel combined delivery approach.

Eichelr F, Flotte T, Andonian H, et al. AXO-AAV-GM2 gene therapy for infantile- and juvenile-onset GM2 gangliosidosis: Preliminary results from an ongoing phase 1/2 trial. Presented at: ASGCT 25th Annual Meeting, May 16-19, 2022, Washington DC.
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