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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| AXO-AAV-GM2 | Drug | Participants who received AXO-AAV-GM2 will be tracked in long term follow up |
|
| 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Subjects with Tay-Sachs or Sandhoff Disease who were previously treated with AXO-AAV-GM2
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| Name | Affiliation | Role |
|---|---|---|
| Terence Flotte, MD | UMass Chan Medical School | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| UMass Chan Medical School | Worcester | Massachusetts | 01655 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 40817303 | Derived | 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. |
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| ID | Term |
|---|---|
| D020143 | Gangliosidoses, GM2 |
| D013661 | Tay-Sachs Disease |
| D012497 | Sandhoff Disease |
| ID | Term |
|---|---|
| D005733 | Gangliosidoses |
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
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May possibly retain frozen blood samples.
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |