An observational study in Tay-Sachs Disease Ganglioside and Sandhoff Disease Ganglioside, sponsored by Assistance Publique - Hôpitaux de Paris. Not yet recruiting at 1 site in France. Open to participants aged 5 Years and older. Per ClinicalTrials.gov, last updated 2026-03-06.
Sponsored by Assistance Publique - Hôpitaux de Paris · Observational
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.
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.
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patients with GM2 gangliosidosis
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patients with GM2 gangliosidosis
Biological: blood sample
collecting blood sample for various analyses
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.
Time frame: 18 months
Plan to share: No
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This study is not yet recruiting, as verified in Mar 2026. You cannot join it, but the record below documents what was studied.
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