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

Dr. Anupam Sehgal

Status and phase: Active, not recruiting; Phase 2; Phase 1

Conditions: Infantile GM2 Gangliosidosis (Disorder)

Treatments: Biological: TSHA-101

Study type: Interventional

Funder types: Other; Industry

Identifiers

NCT04798235

TSHA-101-IST-001

Details and patient eligibility

About

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.

Enrollment: 3 patients

Sex: All

Ages: Under 15 months old

Volunteers: No Healthy Volunteers

Inclusion and exclusion 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

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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3 participants in 1 patient group

TSHA-101

Experimental group

Description:

Subjects who will receive one-time intrathecal TSHA-101, brain volume based sliding scale for dosage

Treatment:

Biological: TSHA-101