Our current pipeline of gene therapy candidates targets GM1 gangliosidosis, GM2 gangliosidosis (including Tay-Sachs disease and Sandhoff
disease), and Parkinson's disease.
Axovant Sciences announced that it has licensed exclusive worldwide rights for the development and commercialization of two novel gene therapy programs to address GM1 gangliosidosis and GM2 gangliosidosis -- also known as Tay-Sachs and Sandhoff
diseases -- from the University of Massachusetts Medical School.
Due to the high unmet medical need, the company is initially prioritizing the development of the IB1000s series for the treatment of three orphan indications, including Niemann Pick disease Type C (NPC), inherited Cerebellar Ataxias (CA), GM2 Gangliosidosis (Tay-Sachs and Sandhoff
disease), for which there are currently no approved therapies.
(4.) Gravel RA, Kaback MM, Proia RL, Sandhoff
K, Suzuki K.
GM2 gangliosidoses including Tay-Sachs disease [TSD, Online Mendelian Inheritance in Man (OMIM) 272800], Sandhoff
disease (SD, OMIM 268800) and GM2 activator protein deficiency (GM2; OMIM 272750) are rare lysosomal storage disorders of the sphingolipid metabolism due to an autosomal recessive inheritance.
At 2 years of age, comprehensive screening for metabolic disorders was completed including mannosidosis, fucosidosis, metachromatic leukodystrophy, Sandhoff
disease, lysosomal storage diseases, GM1 gangliosidosis, Krabbe disease, and mucopolysaccharidosis (types 13 and 6).
Deficiencies of N-acetyl-[beta]-hexosaminidase A and B isoenzyme activities in neonatal body are the reason for storing gangliosides in their lysosomes that cause Sandhoff
and Tay-Sachs diseases .
, "Subcellular localization and membrane topology of serine palmitoyltransferase, 3-dehydrosphinganine reductase, and sphinganine N- acyltransferase in mouse liver," The Journal of Biological Chemistry, vol.
, "The c-series gangliosides GT3, GT2 and GP1C are formed in rat liver golgi by the same set of glycosyltransferases that catalyse the biosynthesis of asialo-, a- and b-series gangliosides," Glycobiology, vol.
A series of tests found she had Sandhoff
disease, a genetic illness that destroys nerve cells, and doctors said she would not live beyond the age of four.
Rebekah had moved judges to tears during her audition after she revealed that she had previously lost threeyear-old son Ethan to Sandhoff
Syndrome - a rare inherited disease that progressively attacks the nerve cells in the brain and spinal cord.