Assistant professor of neurology, Harvard Medical School, and director, leukodystrophy service, Massachusetts General Hospital.

Florian Eichler, MD

“We have a certain window within which we need to treat as soon as these patients are diagnosed and the genetics are clear, but before the disease has advanced too far, because at that point... it is likely these children will not benefit from the kind of gene replacement that we're performing here.”

Bithalamic, intra-cisterna magna (ICM) and intrathecal delivery of AXO-AAV-GM2 (Sio Gene Therapies) gene therapy has been found to be well-tolerated in all 5 participants with GM2 gangliosidosis dosed so far, with MRI evidence of accurate bithalamic targeting.

Updated data from a phase 1/2 trial (NCT04669535) 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. The study is being conducted at Worcester General Hospital and Massachusetts General Hospital, where Eichler serves as the director of the leukodystrophy service.

spoke with Eichler during the meeting to learn more about the phase 1/2 trial and its current progress with enrollment and dosing. He discussed promising enzyme activity and reduction of gangliosides.

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.

Videos

The director of the leukodystrophy service at Mass Gen discussed progress dosing in the phase 1/2 trial. 

Florian Eichler, MD, on Promising Efficacy of AXO-AAV-GM2 in GM2 Gangliosidosis 

“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.

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.

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

Florian Eichler, MD

Articles

Florian Eichler, MD, on Promising Efficacy of AXO-AAV-GM2 in GM2 Gangliosidosis

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