Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff Disease

Long-Term Follow-Up of A Two-Stage Dose-Escalation Study to Evaluate the Safety and Efficacy of Bilateral Intraparenchymal Thalamic and Intracisternal/Intrathecal Admin of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease

This study is to continue Long-Term Follow-Up of Patients who were previously treated with AXO-AAV-GM2 Gene Therapy as treatment for Tay-Sachs or Sandhoff Disease to follow the subjects through 5 years after their initial gene therapy treatment.

Study Overview

• Status: Active, not recruiting
• Conditions: GM2 Gangliosidosis; Tay Sachs Disease; Sandhoff Disease
• Intervention / Treatment: Drug: AXO-AAV-GM2

Detailed Description

Subjects will be contacted bi-annually for a total of five years following the administration of AXO-AAV-GM2 for the collection of clinical information, especially pertaining to de novo cancer, neurologic, rheumatologic, and hematologic/immunologic disorders. This will be done to comply with FDA Recommendations and NIH Guidelines for long-term follow-up for research involving gene therapy with AAV Vectors.

• Study Type: Observational
• Enrollment (Estimated): 7

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Worcester, Massachusetts, United States, 01655
      • UMass Chan Medical School

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Subjects with Tay-Sachs or Sandhoff Disease who were previously treated with AXO-AAV-GM2

Description

Inclusion Criteria:

• Subjects who were previously enrolled in the study "A Two-Stage Dose-Escalation Study to Evaluate the Safety and Efficacy of Bilateral Intraparenchymal thalamic and intracisternal/Intrathecal Admin of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease."

Exclusion Criteria:

• Subjects who were not previously enrolled under the initial protocol.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Subjects previously treated with AXO-AAV-GM2 gene therapy for Tay-Sachs or Sandhoff Disease; All subjects have previously received gene therapy and will be followed for the collection of clinical information, especially pertaining to de novo cancer, neurologic, rheumatologic, and hematologic/immunologic disorders following AAV gene therapy.	Drug: AXO-AAV-GM2; Participants who received AXO-AAV-GM2 will be tracked in long term follow up

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Long term Safety of AXO-AAV-GM2	Participants will be monitored for adverse events, including delayed adverse events, as a result of AXO-AAV-GM2 including de novo cancer, neurologic, rheumatologic, and hematologic/immunologic disorders.	Every 6 months, up to five years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Long term Impact of AXO-AAV-GM2	Participants will be monitored for the impact of treatment with AXO-AAV-GM2 on the expected natural history of their condition in the domains of neurocognitive adaptive, developmental, neurological and motor function.	Every 6 months, up to five years

Collaborators and Investigators

• Sponsor: Terence Flotte
• Investigators: Principal Investigator: Terence Flotte, MD, UMass Chan Medical School

Publications and helpful links

General Publications

• Eichler F, Cataltepe OI, Daci R, Puri AS, Taghian T, Jiang X, Shazeeb MS, Kuhn A, Hader A, Celik H, Vardar Z, Lewis CJ, Artinian R, Nagy A, Vachha B, Thompson R, Gallagher T, Bateman S, Parzych J, Spanakis SG, Vaughn TA, Pier K, De Boever E, Abbott MA, D Ambrosio E, Kokoski D, Blackwood M, Drummond E, Ratai EM, Townsend EL, McLaughlin H, Tifft CJ, Keeler AM, Sena-Esteves M, Gray-Edwards HL, Flotte TR. Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial. Nat Med. 2025 Sep;31(9):2927-2935. doi: 10.1038/s41591-025-03822-4. Epub 2025 Aug 15.

Study record dates

Study Major Dates

• Study Start (Actual): September 17, 2024
• Primary Completion (Estimated): December 1, 2028
• Study Completion (Estimated): December 1, 2028

Study Registration Dates

• First Submitted: September 23, 2024
• First Submitted That Met QC Criteria: September 25, 2024
• First Posted (Actual): September 26, 2024

Study Record Updates

• Last Update Posted (Estimated): October 16, 2025
• Last Update Submitted That Met QC Criteria: October 15, 2025
• Last Verified: October 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Lipid Metabolism Disorders; Lysosomal Storage Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Sphingolipidoses; Lipidoses; Gangliosidoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Gangliosidoses, GM2; Tay-Sachs Disease; Sandhoff Disease
• Other Study ID Numbers: STUDY00001894

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No