Tay-Sachs Disease GangliosideGM2-TGEXNCT07445490
Translational Potential of ex Vivo Gene Therapy in GM2 Gangliosidosis
An observational study of Tay-Sachs Disease Ganglioside and Sandhoff Disease Ganglioside, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
The project aims to optimize and validate this new therapeutic strategy using cells from GM2 patients to evaluate the cross-correction of neurons in vitro by the culture medium of genetically modified myeloid cell lines. Read more about this study
- Who is it for?
- Ages 5 years and older
- Conditions the study is for
- Tay-Sachs Disease Ganglioside, Sandhoff Disease Ganglioside
- What is being tested?
- blood sample
- How many people
- 6 participants
- Where
- 1 siteFrance
- Study dates
- May 2026to Nov 2027
- 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 5 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: patients with GM2 gangliosidosis
Who may be able to join
- Proven diagnosis of GM2 gangliosidosis (decreased β-hexosaminidase enzyme activity and/or biallelic pathogenic variants in the HEXA or HEXB gene)
- Age ≥ 5 years
- Blood sample planned as part of treatment
Who cannot join
- Opposition from the patient or legal guardians
- Contraindication to venous sampling
- Patient under guardianship or curatorship
- Patient not covered by social security
- Patient covered by AME (State Medical Aid)
- Weight < 25 kg for minor patients
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site
Département de Neurologie
Paris, 75013
Yann NADJAR, MD, 01 42 16 17 52 ext. +33, yann.nadjar@aphp.fr
About this study
The project aims to optimize and validate this new therapeutic strategy using cells from GM2 patients to evaluate the cross-correction of neurons in vitro by the culture medium of genetically modified myeloid cell lines. The ultimate goal is to demonstrate the potential of CHS-TGEX as an effective treatment in humans for GM2 gangliosidosis.
Read the detailed description
β-hexosaminidase (β-Hex) is a lysosomal enzyme essential for the degradation of GM2 ganglioside, a glycosphingolipid found mainly in the central nervous system. It is composed of α and β subunits, encoded by the HEXA and HEXB genes, respectively, which combine in different dimers. Mutations in HEXA or HEXB cause Tay-Sachs disease (TSD) and Sandhoff disease (SD), two lysosomal storage disorders that lead to the accumulation of gangliosides in the brain and progressive neurodegeneration. The infantile forms are rapidly fatal, while the late forms progress more slowly, with ataxia, motor weakness, and psychiatric disorders.
No curative treatment exists. Intracerebral gene therapy trials using AAV vectors are underway in children, but uncertainties remain regarding their long-term safety and efficacy. The investigators propose an alternative approach using ex vivo gene therapy on hematopoietic stem cells (HSC-TGEX) with lentiviral vectors integrating the human HEXA and HEXB genes. These modified cells can generate myeloid lineages capable of producing and secreting β-hexosaminidase.
The project aims to optimize and validate this new therapeutic strategy using cells from GM2 patients to evaluate the cross-correction of neurons in vitro by the culture medium of genetically modified myeloid cell lines. The ultimate goal is to demonstrate the potential of CHS-TGEX as an effective treatment in humans for GM2 gangliosidosis.
- Being tested
- blood sample
- Keywords
- Sandhoff, Tay-Sachs, gangliosidosis
- Medical subject headings
- Gangliosidoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood sampleBiological
collecting blood sample for various analyses
| Study group | Role | What they receive |
|---|---|---|
| GM2 gangliosidosis | patients with GM2 gangliosidosis Receives: Biological: blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
Demonstrate effective cross-correction between myeloid cell lines (derived from patients) that have undergone ex vivo gene therapy and in vitro neurons derived from iPSCs from patients with GM2 gangliosidosis.
100% increase in neuronal β-hexosaminidase enzyme activity after cross-correction.
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Mar 2026
- Study startMay 2026 (estimated)
- Primary completionMay 2026 (estimated)
- Study completionNov 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Tay-Sachs Disease GangliosideStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- 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
- 6 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07445490
- Sponsor's protocol ID
- APHP260012
- Acronym
- GM2-TGEX
- Status last verified
- Mar 2026
- First submitted
- 25 Feb 2026
- Last updated
- 6 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Translational Potential of ex Vivo Gene Therapy in GM2 Gangliosidosis
- ClinicalTrials.gov ID
- NCT07445490
- Acronym / sponsor ID
- GM2-TGEX / APHP260012
- Keywords
- Sandhoff, Tay-Sachs, gangliosidosis
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 6 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- May 2026 (estimated)
- Primary completion
- May 2026 (estimated)
- Study completion
- Nov 2027 (estimated)
- First posted
- 3 Mar 2026 (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.
The project aims to optimize and validate this new therapeutic strategy using cells from GM2 patients to evaluate the cross-correction of neurons in vitro by the culture medium of genetically modified myeloid cell lines. The ultimate goal is to demonstrate the potential of CHS-TGEX as an effective treatment in humans for GM2 gangliosidosis.
Detailed description
β-hexosaminidase (β-Hex) is a lysosomal enzyme essential for the degradation of GM2 ganglioside, a glycosphingolipid found mainly in the central nervous system. It is composed of α and β subunits, encoded by the HEXA and HEXB genes, respectively, which combine in different dimers. Mutations in HEXA or HEXB cause Tay-Sachs disease (TSD) and Sandhoff disease (SD), two lysosomal storage disorders that lead to the accumulation of gangliosides in the brain and progressive neurodegeneration. The infantile forms are rapidly fatal, while the late forms progress more slowly, with ataxia, motor weakness, and psychiatric disorders.
No curative treatment exists. Intracerebral gene therapy trials using AAV vectors are underway in children, but uncertainties remain regarding their long-term safety and efficacy. The investigators propose an alternative approach using ex vivo gene therapy on hematopoietic stem cells (HSC-TGEX) with lentiviral vectors integrating the human HEXA and HEXB genes. These modified cells can generate myeloid lineages capable of producing and secreting β-hexosaminidase.
The project aims to optimize and validate this new therapeutic strategy using cells from GM2 patients to evaluate the cross-correction of neurons in vitro by the culture medium of genetically modified myeloid cell lines. The ultimate goal is to demonstrate the potential of CHS-TGEX as an effective treatment in humans for GM2 gangliosidosis.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| GM2 gangliosidosis | – | Biological: blood samplepatients with GM2 gangliosidosis |
Who may qualify
- Ages
- 5 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- patients with GM2 gangliosidosis
Key inclusion criteria (3 listed)
- Proven diagnosis of GM2 gangliosidosis (decreased β-hexosaminidase enzyme activity and/or biallelic pathogenic variants in the HEXA or HEXB gene)
- Age ≥ 5 years
- Blood sample planned as part of treatment
Key exclusion criteria (6 listed)
- Opposition from the patient or legal guardians
- Contraindication to venous sampling
- Patient under guardianship or curatorship
- Patient not covered by social security
- Patient covered by AME (State Medical Aid)
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 |
|---|---|---|
| blood samplecollecting blood sample for various analyses | Biological | GM2 gangliosidosis |
Primary outcome
Demonstrate effective cross-correction between myeloid cell lines (derived from patients) that have undergone ex vivo gene therapy and in vitro neurons derived from iPSCs from patients with GM2 gangliosidosis.
Time frame: 18 months
100% increase in neuronal β-hexosaminidase enzyme activity after cross-correction.
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 6 Mar 2026.
- Individual participant dataSharing planned: No
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.
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 Tay-Sachs Disease Ganglioside and Sandhoff Disease Ganglioside, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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 3 inclusion and 6 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: opening soon, as of the sponsor's last update on 6 Mar 2026. 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 France. 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?
Contact Yann NADJAR, MD (01 42 16 17 52 ext. +33, yann.nadjar@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Demonstrate effective cross-correction between myeloid cell lines (derived from patients) that have undergone ex vivo gene therapy and in vitro neurons derived from iPSCs from patients with GM2 gangliosidosis. (time frame: 18 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 6 Mar 2026.