Thelansis

 Batten Disease, one of the rare genetic disorders, falls within the category of progressive degenerative neurometabolic disorders collectively known as neuronal ceroid lipofuscinoses. Human NCLs result from mutations in several genes, encompassing over 430 mutations. These genes play various roles, including encoding lysosomal enzymes (such as CLN1, CLN2, CLN10, and CLN13), a soluble lysosomal protein (CLN5), a protein involved in the secretory pathway (CLN11), two cytoplasmic proteins that also interact with membranes (CLN4 and CLN14), as well as multiple transmembrane proteins found in different subcellular locations (CLN3, CLN6, CLN7, CLN8, and CLN12). While most mutations in these genes typically manifest as a standard disease phenotype, some result in a wide range of disease onset, severity, and progression, leading to distinct clinical phenotypes. Within this spectrum, there remain disease subgroups for which the molecular genetic backgrounds remain unknown. The initial symp...

  Batten disease – Market outlook, Epidemiology, Market Forecast and Competitive Landscape Report – 2020 To 2030 (Markets covered: US, Germany, France, Spain, United Kingdom, Italy, Japan & China). Batten disease is the common name for a broad class of rare, fatal, inherited disorders of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs. Etiology- Batten disease is an inherited genetic disorder that appears to affect the function of tiny bodies within cells called lysosomes. In Batten disease/NCLs, the mutated genes do not produce the proper amounts of proteins important for lysosomal function. Epidemiology- Batten Disease and other forms of NCL are relatively rare, occurring in an estimated 2 to 4 of every 100,000 births in the United States. The competitive landscape of Batten disease includes country-specific approved as well as pipeline therapies. Any asset/product-specific designation or review and Accelerated Approval are being tracked a...