Translational Potential of ex Vivo Gene Therapy in GM2 Gangliosidosis

NCT07445490 | Not Yet Recruiting

• 1 other identifier: APHP260012
• Study Type: observational
• Target: 6
• Locations: 1 country
• Sites: 1

Brief 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. The ultimate goal is to demonstrate the potential of CHS-TGEX as an effective treatment in humans for GM2 gangliosidosis.

Conditions

Tay-Sachs Disease Ganglioside; Sandhoff Disease Ganglioside

Keywords

Sandhoff; Tay-Sachs; gangliosidosis

Outcome Measures

Primary Outcomes (1)

• 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.

  18 months

Study Arms (1)

GM2 gangliosidosis

patients with GM2 gangliosidosis

Biological: blood sample

Interventions

blood sample BIOLOGICAL

collecting blood sample for various analyses

GM2 gangliosidosis

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patients with GM2 gangliosidosis

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Département de Neurologie

Paris, 75013, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood samples

MeSH Terms

Conditions

Gangliosidoses

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Yann NADJAR, MD

CONTACT

01 42 16 17 52; yann.nadjar@aphp.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 25, 2026
• First Posted: March 3, 2026
• Study Start: May 1, 2026
• Primary Completion: May 1, 2026
• Study Completion (Estimated): November 1, 2027
• Last Updated: March 6, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)