IntraBio Inc has announced that it has been granted orphan designation by the US Food and Drug Administration for its lead drug series, IB1000s, for therapeutic use in the rare lysosomal storage disorders GM2 Gangliosidoses (Sandhoff and Tay-Sachs Disease).
GM2 Gangliosidosis affects an estimated 1:200,000 -320,000 live births and is caused by mutations in the HEXA gene, which disrupt the activity of the enzyme beta-hexosaminidase A, preventing the enzyme from breaking down GM2 gangliosides. As a result, GM2 gangliosides accumulates to toxic levels, particularly in neurons in the brain and spinal cord, causing progressive damage that leads to the destruction of these neurons, causing the signs and symptoms seen in Tay-Sachs disease.
The disease is rapidly progressive and features a range of debilitating symptoms. There are currently no authorized therapies for the treatment of the GM2 Gangliosides
In compassionate-use clinical studies, as well as in vitro and in vivo studies, IB1000s have been demonstrated to be a potential treatment for Tay-Sachs disease. Based on these findings, IntraBio is currently in the process of applying for multinational clinical studies with IB1001 for the treatment of Tay-Sachs disease, as well as Niemann-Pick type C and inherited cerebellar ataxia.