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…
AVROBIO has obtained $60 million in additional financing to start a Phase 2 clinical trial of its gene therapy for Fabry disease. The second round of financing will also help the company continue developing treatments for other lysosomal storage disorders, Gaucher disease, cystinosis, and Pompe disease. A Phase 1 trial (…
Amicus Therapeutics recently announced the launch of Galafold (migalastat) in Spain for the long-term treatment of anyone who has Fabry disease and is older than 16 years. Following final regulatory adjustments, Galafold is now reimbursed in Spain for age-eligible patients with a confirmed diagnosis of Fabry disease and who have…
The Canadian Drug Expert Committee (CDEC) has recommended in favor or reimbursement of Galafold (migalastat) for long-term treatment of adults with a confirmed diagnosis of Fabry disease and who have an amenable mutation, Amicus Therapeutics announced. CDEC will now start conversations with regulatory authorities to make Galafold available to Canadian…
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