First-in-Human Study of TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis

NCTID	NCT04798235 (View at clinicaltrials.gov)
Description	GM2 gangliosidoses are a group of autosomal recessive neurodegenerative diseases characterized by a deficiency of the Hex A enzyme to catabolize GM2, thereby causing GM2 accumulation within cellular lysosomes.Hex A is composed of 2 subunits, α- and β-, coded by the HEXA and HEXB genes, respectively. The primary purpose of the current study is to assess the safety and tolerability of TSHA101 administered via IT injection. (Show More)
Development Status	Active
Indication	Infantile GM2 Gangliosidosis
Disease Ontology Term	DOID:3320; DOID:3323
Compound Name	TSHA-101
Sponsor	Dr. Anupam Sehgal
Funder Type	Other
Recruitment Status	Active not recruiting
Enrollment Count	3 (ACTUAL)
Results Posted	Not Available

Target Gene/Variant	HEXA/HEXB
Therapy Type	Gene transfer
Therapy Route	In-vivo
Mechanism of Action	Functional gene replacement
Route of Administration	Intrathecal
Drug Product Type	Viral vector
Delivery System	Viral transduction
Vector Type	AAV9
Dose 1	5E14 vg (n=3)

Eligible Age	<=15 Months
Standard Ages	Child
Sexes Eligible for Study	ALL
Eligibility Criteria	Key Inclusion Criteria: * male or female with age less than or equal to 15 months * diagnosis of GM2 gangliosidosis with genetic and enzymatic documentation of infantile disease Key Exclusion Criteria: * a second neurodevelopmental disorder independent of the HEXA or HEXB * inability to tolerate sedation or intrathecal administration * invasive ventilatory support * concomitant illness, allergies or known hypersensitivity to the required immunosuppression regimen View Inclusion and Exclusion Criteria at ClinicalTrials.gov

No.of Trial Sites	1
Locations	Canada

Has US IND	False
FDA Designations	Orphan Drug Designation, Rare Pediatric Disease Designation
Recent Updates	The Company announced they had transferred rights back to Queen's University in February 2024