News

An enzyme structurally similar to alpha-galactosidase A (GLA), present in a close relative of the tobacco plant, was able to rescue Fabry disease patients’ cells. These findings suggest that plant alpha-galactosidases can be a potential new source for enzyme replacement therapy in Fabry disease. The study “Nicotiana benthamiana α-galactosidase A1.1 can…

Genetic and enzymatic screening of people in Spain revealed that the real prevalence of Fabry disease is likely underestimated, and that late diagnosis is detrimental to patients because of delayed treatment. The study, “Fabry disease in the Spanish population: observational study with detection…

A specific mutation in the GLA gene is associated with late-onset Fabry disease, and primarily affects the heart with more severe symptoms in males, according to researchers who received information from an international Fabry disease registry.  Cardiac problems in people carrying this mutation may become…

April is Fabry Disease Awareness Month, and Amicus Therapeutics helped to raise awareness about the disease, as well as Pompe disease, by participating in a series of activities throughout the month. Fabry disease is an inherited lysosomal storage disorder caused by deficiency of an enzyme called alpha-galactosidase A (alpha…

A specific genetic mutation of the GLA gene results in the development of atypical late-onset Fabry disease, a study found. The study, “Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation,” was published in Plos One. Fabry disease is caused by genetic…

Amicus Therapeutics has launched Healing Beyond Disease, an initiative designed to celebrate people living with rare diseases, like Fabry disease, and their loved ones. “We are thrilled and honored to officially launch Healing Beyond Disease, our unique promise to further serve the needs of the rare disease community in extraordinary…

Gastrointestinal specialists should add Fabry disease to their list of possible causes of non-specific gastrointestinal symptoms, according to a review published in the journal Digestive and Liver Disease. The authors suggest that improved diagnostic tools for these symptoms may help the diagnosis of Fabry disease. The recent study, “…

Timely diagnosis of Fabry disease can prevent irreversible structural changes in the heart, a study reports. In their research, “Echocardiographic Assessment of Patients with Fabry Disease,” a Canadian team reviewed the characteristics of heart abnormalities associated with Fabry disease. Their article appeared in the Journal of…

Biotechnology companies Shire and NanoMedSyn are collaborating on research to evaluate a potential enzyme replacement therapy (ERT) for lysosomal storage disorders, including Fabry disease. Under the terms of the new agreement, the two companies will perform preclinical evaluations on NanoMedSyn’s proprietary synthetic derivatives, called AMFA, in combination with recombinant…

Galafold (migalastat) capsules of 123 mg were approved in Japan to treat Fabry disease patients, ages 16 and older, with mutations amenable to the treatment, Amicus Therapeutics recently announced. This move by Japan’s Ministry of Health, Labour and Welfare makes Galafold, developed by Amicus, the first and only oral precision medicine…