Thelansis

  Sangamo Therapeutics, Inc., a genomic medicine company, announced the outcome of a recent successful interaction with the U.S. Food and Drug Administration. This interaction has provided a clear regulatory pathway to accelerated Approval for isaralgagene civaparvovec (ST-920), its wholly owned gene therapy product candidate for the treatment of Fabry disease. “Fabry disease is a debilitating condition with a significant unmet medical need,” said Sandy Macrae, CEO of Sangamo Therapeutics. Publish Date: 22-10-2024   Source: Sangamo Therapeutics, Inc. Fabry disease, a rare genetic metabolic storage disorder, results in the progressive failure of organs and premature death. It arises from a mutation in the galactosidase alpha gene, causing a deficiency or absence of α-galactosidase A (GALA), a lysosomal enzyme. Consequently, this deficiency impairs the breakdown of globotriaosylceramide (Gb3) and related glycosphingolipids, gradually accumulating Gb3 and glycosphingolip...

 Fabry disease, a rare genetic metabolic storage disorder, results in the progressive failure of organs and premature death. It arises from a mutation in the galactosidase alpha gene, causing a deficiency or absence of α-galactosidase A (GALA), a lysosomal enzyme. Consequently, this deficiency impairs the breakdown of globotriaosylceramide (Gb3) and related glycosphingolipids, gradually accumulating Gb3 and glycosphingolipids within lysosomes. These accumulations are believed to have cytotoxic, proinflammatory, and profibrotic effects. Patients with late-onset Fabry disease typically manifest symptoms later in life, primarily affecting a single organ system, most commonly the heart. Nevertheless, diagnosing Fabry's disease can be challenging due to its rarity and diverse symptoms. Over time, the disease causes progressive tissue damage, ultimately resulting in organ failure. Untreated individuals, both males and females, face a reduced life expectancy compared to the general popula...

 Fabry disease, a rare genetic metabolic storage disorder, results in the progressive failure of organs and premature death. It arises from a mutation in the galactosidase alpha gene, causing a deficiency or absence of α-galactosidase A (GALA), a lysosomal enzyme. Consequently, this deficiency impairs the breakdown of globotriaosylceramide (Gb3) and related glycosphingolipids, gradually accumulating Gb3 and glycosphingolipids within lysosomes. These accumulations are believed to have cytotoxic, proinflammatory, and profibrotic effects. Patients with late-onset Fabry disease typically manifest symptoms later in life, primarily affecting a single organ system, most commonly the heart. Nevertheless, diagnosing Fabry's disease can be challenging due to its rarity and diverse symptoms. Over time, the disease causes progressive tissue damage, ultimately resulting in organ failure. Untreated individuals, both males and females, face a reduced life expectancy compared to the general popula...

  Fabry disease is a genetic metabolic storage disease that leads to progressive organ failure and premature death). It is caused by a mutation in the galactosidase alpha gene, which leads to the absent or deficient function of the lysosomal enzyme α-galactosidase A (GALA). Consequently, this results in an impairment of the metabolization of globotriaosylceramide (Gb3) and related glycosphingolipids and subsequently, in a progressive lysosomal accumulation of Gb3 and glycosphingolipids. Those accumulations are thought to have cytotoxic, proinflammatory, and profibrotic effects. Patients with late-onset FD are mostly seen later in life, and their symptoms usually center around one organ system, most often the heart. However, diagnosis of FD can be challenging due to its rarity and multifaceted symptoms. Fabry disease prevalence in the USA is reported to be ~1.035 cases in every 50,000 population. Thelansis’s “Fabry Disease Market Outlook, Epidemiology, Competitive Landsca...

  Fabry disease is a rare inherited disorder of glycosphingolipid (fat) metabolism resulting from the absent or markedly deficient activity of the lysosomal enzyme, α-galactosidase A (α-Gal A). This disorder belongs to a group of diseases known as lysosomal storage disorders. This enzymatic deficiency is caused by alterations (mutations) in the α-galactosidase A (GLA) gene that instructs cells to make the α-galactosidase A (α-Gal A) enzyme.   Etiology- Fabry disease is caused by alterations (mutations) in the alpha-galactosidase A (GLA) gene located on the X-chromosome. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Alpha-galactosidase A normally breaks down a fatty substance called globotriaosylceramide. Mutations in the GLA gene alter the structure and function of the enzyme, preventing it from breaking down this substance effectively.   Epidemiology- According to Thelansis disease modeling data, result...