News

Changes in Heart, Kidney Function May Be Undiagnosed Fabry Disease

A long clinical history of cardiac alterations, including heart valve impairments, without an apparent cause and accompanied by kidney dysfunction may be a sign of undiagnosed Fabry disease, a case report suggests. The report, “Transcatheter Tricuspid Valve Replacement for Anderson Fabry Disease With Severe Tricuspid Regurgitation,” was published…

Gene Therapy 4D-310 Boosts Heart Health in 3 Patients After 1 Year

One year after treatment with 4D-310, an experimental gene therapy for Fabry disease, measures of heart health have improved in the first three participants in a clinical trial, according to new data announced by the therapy’s developer, 4D Molecular Therapeutics (4DMT). “4D-310 holds promise as a potential first-in-class treatment…

Fabry Screening in Men With Pacemakers Not Supported in Study

A program that screened nearly 500 men with implanted pacemakers for Fabry disease found that none of them had the genetic disorder. The findings “suggest that the prevalence of [Fabry disease] in male patients requiring permanent pacing is very low and does not justify a systematic screening,” according to…

PRX-102’s Approval Application Resubmitted to FDA

An application seeking approval for PRX-102 (pegunigalsidase alfa), an experimental enzyme replacement therapy for adults with Fabry disease, has been resubmitted to the U.S. Food and Drug Administration (FDA). Protalix BioTherapeutics and its partner Chiesi Global Rare Diseases expect the review of their request, sent in…

Family Genetic Screening of 331 People Detects 165 New Fabry Cases

Genetic screening for 331 family members of Russian Fabry disease patients led to the detection of 165 undiagnosed cases, a study reports. Family genetic screening was also found more effective than other screening programs for identifying Fabry cases. “Family genetic testing was significantly more effective (49.8%) than screening programs…