Phase 1/2, Open-Label Clinical Trial to Evaluate the Safety and Efficacy of TSHA-101, an Intrathecally Dosed Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis
The Queen’s University Phase 1/2 gene therapy trial for infants suffering from GM2 gangliosidosis is now enrolling patients globally in Kingston, Ontario, Canada.
GM2 gangliosidosis, also known as Tay-Sachs (TSD) or Sandhoff disease (SD), is a rare and fatal pediatric neurodegenerative lysosomal storage genetic disorder caused by defects in the HEXA (leading to Tay-Sachs disease) or HEXB (leading to Sandhoff disease) genes that encode the two subunits of the .-hexosaminidase A (HexA) enzyme. According to the onset and rate of disease progression, the condition can be categorized in infantile, juvenile, and adult forms. There are no current treatments for GM2 gangliosidosis.
This clinical trial will be a first-in-human Phase 1/2 open-label study using TSHA-101. TSHA-101 uses a recombinant viral vector called adeno-associated virus, serotype 9 (AAV9), to deliver genetic material intrathecally to the central nervous system, including the brain and spinal cord, for the treatment of infantile GM2 gangliosidosis. The protein product of the viral vector will be both the .-and .-subunits, making this therapy suitable for both the TSD and SD populations.
The primary objective of the trial is to assess the safety and tolerability of a one-time intrathecal administration of TSHA-101 in subjects up to 12 months of age with a confirmed diagnosis of GM2 gangliosidosis. The secondary objective is to demonstrate preliminary efficacy of intrathecally delivered TSHA-101 at the selected dose. Measures of preliminary efficacy include neurodevelopmental, motor and biomarker assessments.
For additional information about the trial, please click here.
For information about enrolling patients, please contact the Principal Investigator, Dr. Anupam Sehgal, at: email@example.com.
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- GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies. Leal AF, Benincore-Flórez E, Solano-Galarza D, Garzón Jaramillo RG, Echeverri-Peña OY, Suarez DA, Alméciga-Díaz CJ, Espejo-Mojica AJ. Int J Mol Sci. 2020 Aug 27;21(17):6213.
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