Tay-Sachs disease is a neurodegenerative metabolic disease caused by a mutation in the HEXA gene, which encodes the alpha-subunit of the lysosomal enzyme beta-N-acetylhexosaminidase. As a result, the enzyme exhibits impaired function, leading to ganglioside accumulation in neurons and eventually to progressive neuronal death in the brain and spinal cord. To date, there is no treatment or cure for Tay-Sachs disease.
In patients with enzymatic abnormalities and metabolic storage disorders, cell therapies enable synthesis of normal functional enzymes that may be capable of circulating and improving cellular functions in the native tissues.
Neuronal stem cells (NSCs) delivered into the central nervous system, via the spinal canal, may replace and/or repair the damaged neuronal tissues.