GM2 GangliosidosisNCT06614569
Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff Disease
An observational study of GM2 Gangliosidosis and Tay Sachs Disease, run by Terence Flotte at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- GM2 Gangliosidosis, Tay Sachs Disease, Sandhoff Disease
- What is being tested?
- AXO-AAV-GM2
- How many people
- 7 participants
- Where
- 1 siteUnited States
- Study dates
- 17 Sep 2024to Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Subjects with Tay-Sachs or Sandhoff Disease who were previously treated with AXO-AAV-GM2
Who may be able to join
- 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."
Who cannot join
- Subjects who were not previously enrolled under the initial protocol.
Trial locations and contacts
1 site in 1 country.
United States1 site
UMass Chan Medical School
Worcester, Massachusetts, 01655
About this study
Official 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
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.
Read the 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.
- Conditions
- GM2 Gangliosidosis, Tay Sachs Disease, Sandhoff Disease
- Being tested
- AXO-AAV-GM2
- Medical subject headings
- Gangliosidoses, GM2, Tay-Sachs Disease, Sandhoff Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AXO-AAV-GM2Drug
Participants who received AXO-AAV-GM2 will be tracked in long term follow up
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Drug: AXO-AAV-GM2 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Every 6 months, up to five years
Secondary outcomes (1)
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.
Measured: Every 6 months, up to five years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Sep 2024
- Study start17 Sep 2024
- Primary completionDec 2028 (estimated)
- Study completionDec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for GM2 GangliosidosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 7 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Terence Flotte
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Terence Flotte, University of Massachusetts, Worcester
- Investigators
- Terence Flotte, MD, Principal investigator, UMass Chan Medical School
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06614569
- Sponsor's protocol ID
- STUDY00001894
- Status last verified
- Oct 2025
- First submitted
- 23 Sep 2024
- Last updated
- 16 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
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.
PubMed 40817303
Study at a glance
From the registry record, last updated by the sponsor on 16 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official 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
- ClinicalTrials.gov ID
- NCT06614569
- Acronym / sponsor ID
- STUDY00001894
- Conditions
- GM2 Gangliosidosis, Tay Sachs Disease, Sandhoff Disease
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 7 participants (estimated)
- Lead sponsor
- Terence FlotteUniversity, hospital or other
- Study start
- 17 Sep 2024 (actual)
- Primary completion
- Dec 2028 (estimated)
- Study completion
- Dec 2028 (estimated)
- First posted
- 26 Sep 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Subjects previously treated with AXO-AAV-GM2 gene therapy for Tay-Sachs or Sandhoff Disease | – | Drug: AXO-AAV-GM2All 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Subjects with Tay-Sachs or Sandhoff Disease who were previously treated with AXO-AAV-GM2
Key inclusion criteria (1 listed)
- 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."
Key exclusion criteria (1 listed)
- Subjects who were not previously enrolled under the initial protocol.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| AXO-AAV-GM2Participants who received AXO-AAV-GM2 will be tracked in long term follow up | Drug | Subjects previously treated with AXO-AAV-GM2 gene therapy for Tay-Sachs or Sandhoff Disease |
Primary outcome
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.
1 secondary outcome
Long term Impact of AXO-AAV-GM2
Time frame: Every 6 months, up to five years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Oct 2025.
- Derived from this study: PubMed 40817303Eichler 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Terence Flotte, MD principal investigator
UMass Chan Medical School
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of GM2 Gangliosidosis and Tay Sachs Disease, run by Terence Flotte at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 16 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Long term Safety of AXO-AAV-GM2 (time frame: Every 6 months, up to five years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06614569, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Oct 2025.