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

ClinicalTrials.gov ID: NCT04669535

Public ClinicalTrials.gov record NCT04669535. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.

View official ClinicalTrials.gov record → Back to search

ClinicalTrials.gov public records Last synced Sep 6, 2026, 8:19 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Official title

A Two-Stage, Dose-Escalation and Safety & Efficacy Study of Bilateral Intraparenchymal Thalamic and Intracisternal/Intrathecal Administration of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease

Brief summary

Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.

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.

Study identification

NCT ID: NCT04669535
Recruitment status: Terminated
Study type: Interventional
Phase: Phase 1
Lead sponsor: Terence Flotte; Other
Enrollment: 9 participants

Conditions and interventions

Conditions

Interventions

Biological

Eligibility (public fields only)

Age range: 6 Months to 12 Years
Sex: All
Healthy volunteers: Healthy volunteers not accepted

This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.

Study timeline

Start date: Jan 14, 2021
Primary completion: May 22, 2024
Completion: Dec 15, 2024
Last update posted: Sep 1, 2025

2021 – 2024

United States locations

U.S. sites: 2
U.S. states: 1
U.S. cities: 2

Facility	City	State	ZIP	Site status
Massachusetts General Hospital, Center for Rare Neurological Diseases	Boston	Massachusetts	02114	—
University of Massachusetts Medical Health Center	Worcester	Massachusetts	01655	—

Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.

About this trial record page

What this page shows: Public field values for ClinicalTrials.gov record NCT04669535, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
What this page does not do: No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
Where the data comes from: Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
Last refresh: Last update posted Sep 1, 2025 · Synced Sep 6, 2026

Open the official record

The complete protocol, eligibility criteria, and contact information for NCT04669535 live on ClinicalTrials.gov.

View official ClinicalTrials.gov record →