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…
Treatment with Fabrazyme (agalsidase beta) leads to greater heart and biochemical improvements in Fabry disease patients than Replagal (agalsidase alfa), a study suggests. The study, “Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study,” appeared in the Journal of Medical Genetics. Fabry…
Measuring left heart chamber size and functioning could help doctors do a better job of tracking the progression of Fabry disease in people who also have a heart muscle disorder, a study reports. The research, “Comparison of left atrial size and function in hypertrophic cardiomyopathy and in Fabry disease…
Two independent studies published in the journal Molecular Genetics and Metabolism and presented at the 14th Annual WORLDSymposium in San Diego, California, have discovered possible biomarkers to diagnose heart and kidney disorders in Fabry disease. One study, “Collagen type I synthesis biomarkers predict the progression of Fabry…
A small fat molecule that accumulates in the tissues of Fabry disease patients may be used as a biomarker for early diagnosis in the absence of recognizable clinical symptoms, according to a case report. Globotriaosylsphingosine, or lyso-Gb3, is a fat molecule that is broke down by an enzyme called…
The U.S. Food and Drug Administration will be giving priority review to Amicus Therapeutics’ Fabry disease therapy Galafold (migalastat). Fabry disease is caused by mutations of the GLA gene. Amicus asked the FDA to approve Galafold for Fabry patients older than 16 with mutations that can respond to migalastat. Up to half…
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