About GM1 Gangliosidosis

 

GM1 gangliosidosis is a rare, pediatric genetic disease cause by defects in the GLB1 gene that cause the buildup of toxic gangliosides primarily in the cells of the nervous system. The disease results in neurodegeneration that progresses quickly, usually resulting in a significantly shortened lifespan.

About Tay-Sachs and Sandhoff Diseases (GM2 Gangliosidosis)

 

GM2 gangliosidosis is also known as Tay-Sachs disease, which is caused by defects in the HEXA gene, and Sandhoff disease, which is caused by defects in the HEXB gene. These diseases are also characterized by the toxic buildup of gangliosides in the nervous system and result in rapid neurological decline that is uniformly fatal.

Symptoms:

  • Symptoms can appear within a few months after birth and include the inability to swallow or trouble feeding, loss of head control, missed developmental milestones, seizures, blindness and osteoporosis

Epidemiology:

  • The incidence of GM1 gangliosidosis is approximately 1 out of every 100,000 live births worldwide

  • The incidence of Tay-Sachs and Sandhoff diseases is approximately 1 out of every 180,000 live births worldwide

Treatment:

  • Treatment options are limited and there are currently no disease-modifying treatments available

 

Some organizations that offer information, resources and support for patients with GM1 gangliosidosis, Tay-Sachs and Sandhoff diseases include:

AXOVANT GENE THERAPIES

Eleven Times Square, 33rd Floor
New York, NY 10036
United States

+1-833-AXOVANT (1-833-296-8268)

  • Axovant Gene Therapies LinkedIn
  • Axovant Gene Therapies Twitter
  • Axovant Gene Therapies Facebook

AXOVANT SCIENCES GMBH

Viaduktstrasse 8
4051 Basel
Switzerland