This clinic started due to a specific Rare Genetic Kidney disease called Fabry Disease. Fabry Disease affects 1:40,000 individuals. This clinic is one of the country’s largest Fabry Disease clinics ...

While it is possible that someone has Fabry Disease from a spontaneous genetic mutation, meaning that no one else in their family has it, typically once someone is diagnosed and their family ...

Fabry disease is a rare, progressive genetic disorder characterized by a defective gene (GLA) that causes an enzyme deficiency. This enzyme is responsible for breaking down disease substrate that ...

used in treating Fabry disease, a rare genetic lysosomal storage disorder. The proposed regimen suggests a dose of 2 mg/kg body weight administered every four weeks for adults, a modification from ...

Background: Neuropathic pain is one of the key features of (classical) Fabry disease (FD). No randomized clinical trials comparing effectiveness of different pain management strategies have been ...

Figure 1: Enhancement of α–Gal A in lymphoblasts from patients with Fabry disease. Figure 2 ... and possibly to other types of genetic metabolic diseases with deficiency of enzymes, receptors ...

Safety data collected so far in the SMILE study, continue to support the potential of our drug to become a biosimilar treatment for Fabry disease. “This study was designed to scientifically ...