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The same mutation caused both late-onset and classic forms of Fabry disease among different members of the same family, according to a new report. “To our knowledge, there are no previous reports showing that the same missense mutation causes both late-onset and classic form of [Fabry disease] in male…
Testing family members of people diagnosed with Fabry disease can identify new individuals with the condition and improve their health outcomes, a recent study highlights. “Family screening is of great significance in finding new patients with [Fabry disease],” the researchers wrote. “Therefore, genetic counseling should be recommended to all…
The European Commission (EC) is expected to decide whether to approve PRX-102 (pegunigalsidase alfa) for adults with Fabry disease in early May. The therapy’s co-developers, Protalix BioTherapeutics and Chiesi Global Rare Diseases announced that PRX-102 received a positive opinion from the Committee for Medicinal Products for…
People with Fabry disease often have impairment in the nerves that help regulate heartbeat, which may serve as a prognostic measure to assess heart problems in the disease, a study reports. Mild problems with heart nerves were found in many patients in the disease’s earlier stages who didn’t have…
In previously untreated Fabry disease patients with heart involvement, 18 months of treatment with Galafold (migalastat) stabilized measures of heart disease and was linked to a trend toward improvement in exercise tolerance, an observational study reported These findings provide “new detailed evidence on the effect of migalastat on…
More than one in 10 people with Fabry disease have a form of swelling called lymphedema, a recent study reported that highlighted the importance of screening for this type of swelling, which often goes unrecognized. “Strategies to identify lymphedema in a timely manner can facilitate effective treatment and minimize…
The U.S. Food and Drug Administration (FDA) has placed a hold on the 4D-310 clinical program, an experimental gene therapy for Fabry disease being developed by 4D Molecular Therapeutics (4DMT). The hold was disclosed in a filing submitted by 4DMT to the Securities and Exchange Commission earlier this month.
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…
FLT190, an experimental gene therapy from Freeline Therapeutics, safely led to stable increases in the activity of alpha-galactosidase A (alpha-gal A) — the enzyme that is missing in Fabry disease — and prevented the buildup of globotriaosylceramide (Gb3) and lyso-Gb3 in a mouse model of the disease.
Adults with Fabry disease exhibited high levels of adherence to at-home Galafold (migalastat) treatment over a two-year period, according to a recent study. Patients also reported a stable quality of life, with reductions in pain and physical limitations over time — all of which are factors that can influence…
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