Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for 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.

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This study is active but is not currently recruiting participants.

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Key information

Conditions

GM2 Gangliosidosis Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gangliosidoses Gangliosidoses, GM2 Genetic Diseases, Inborn Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sandhoff Disease Sphingolipidoses Tay Sachs Disease Tay-Sachs Disease

Sex eligibility

All sexes

Study type

Observational

Primary location

UMass Chan Medical School

Worcester, Massachusetts, 01655, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

AXO-AAV-GM2

Drug

Participants who received AXO-AAV-GM2 will be tracked in long term follow up

Primary outcomes

Long term Safety of AXO-AAV-GM2

Time frame: Every 6 months, up to five years

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.

Secondary outcomes

Long term Impact of AXO-AAV-GM2

Time frame: Every 6 months, up to five years

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.

Sponsors and collaborators

Lead sponsor

Terence Flotte

Other

Registry information

Official study title

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

Important dates

Study start: 2024
Primary completion: 2028
Study completion: 2028
First posted: Sep 26, 2024
Registry last updated: Oct 16, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting