Clinical trialNCT04669535TerminatedPhase 1Interventional

A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease

SponsorTerence FlotteEnrollment9Sandhoff DiseaseTay-Sachs Disease

View the registry record on ClinicalTrials.gov

Summary

The lay summary the sponsor registered on ClinicalTrials.gov.

The AXO-GM2-001 study is an open-label, two-stage clinical trial designed to evaluate safety and dose-escalation (Stage 1) and safety and efficacy (Stage 2) of a bilateral thalamic and intracisternal/intrathecal infusion of AXO-AAV-GM2 in pediatric participants with GM2 Gangliosidosis (also known as Tay-Sachs or Sandhoff Diseases), a set of rare and fatal pediatric neurodegenerative genetic disorders caused by defects in the HEXA (leading to Tay-Sachs disease) or HEXB (leading to Sandhoff disease) genes that encode the two subunits of the β-hexosaminidase A (HexA) enzyme. AXO-AAV-GM2 is an investigational gene therapy that aims to restore HexA function by introducing a functional copy of the HEXA and HEXB genes via co-administration of two vectors utilizing the neurotropic adeno-associated virus recombinant human 8 serotype (AAVrh.8) capsid carrying the human HEXA or HEXB cDNA. The trial is expected to enroll pediatric participants with Tay-Sachs or Sandhoff Diseases, where infantile-onset participants will range from 6 months to 20 months old, and juvenile-onset participants will range from 2 years to 12 years old.

clinicaltrials.gov ↗

Investigators

The overall officials registered on this study. Names that resolve to a FindMyKOL profile link to it; the rest are shown as registered.

Terence Flotte, MD
University of Massachusetts Medical Health Center
Principal Investigator
clinicaltrials.gov ↗

A profile link is shown only when the registered name resolves to a person record with a confident, namesake-checked match; ambiguous names stay unlinked.

Sites

2 registered facilities, with the per-site recruitment status where the registry publishes one. ClinicalTrials.gov does not publish per-site enrollment counts.

United States

Massachusetts General Hospital, Center for Rare Neurological Diseases
Boston, Massachusetts, United States
University of Massachusetts Medical Health Center
Worcester, Massachusetts, United States

Site investigator names are published by ClinicalTrials.gov only while a study recruits, so completed studies list sites without them.

Drugs studied

The drug and biological interventions registered on this study, normalized to their RxNorm ingredient where possible.

AXO-AAV-GM2 High DoseAXO-AAV-GM2 Low DoseAXO-AAV-GM2 Middle DoseAXO-AAV-GM2 Starting Dose

Linked drugs open the directory filtered to KOLs working with them.clinicaltrials.gov ↗

Registration & key dates

Registry attributes as recorded on the ClinicalTrials.gov study record.

Start: 15 Jan 2021
Primary completion: 23 May 2024
Completion: 16 Dec 2024
Last update posted: 2 Sept 2025
Registered enrollment: 9
Registry id: NCT04669535

clinicaltrials.gov ↗

Source: ClinicalTrials.gov, via the CTTI AACT database, data as of 24 Aug 2026. Registry facts are shown as registered by the study sponsor; FindMyKOL does not interpret them.