News

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…

Personalized care with timely treatment and regular monitoring should be given to adults with Fabry disease to prevent irreversible tissue damage and organ failure, a study reported. Researchers gathered and analyzed recently proposed recommendations for the management and treatment of adults with Fabry disease in a review…

One of the molecules that accumulates in Fabry disease has been found to be a useful diagnostic biomarker of classic and late-onset disease, according to a study with Japanese patients. An analysis of the molecule, globotriaosylsphingosine (lyso-Gb3), was also able to identify unrecognized mutations in Fabry disease. The study, “…

Potential pain-associated pathways and new therapeutic targets have been found in a mouse model of Fabry disease, which has altered expression of hundreds of genes in its nerve cells. The study, “Signatures of Altered Gene Expression in Dorsal Root Ganglia of a Fabry…

A newborn screening study led to Japanese researchers discovering another mutation that may cause Fabry disease. The study, “A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels,” was published in the Official Journal of the Japan Society of Human Genetics. Fabry disease…