A smartphone app, called Fabry App, for remotely assessing Fabry disease was found by patients to be helpful for tracking day-to-day fluctuations in symptoms, while their doctors found it easier to monitor them and identify needs for intervention, a small study conducted in the U.K. shows. “A well-designed app can…
The investigational therapy AL01211 safely lowered levels of globotriaosylceramide (Gb3) — the molecule that toxically accumulates in Fabry disease — among healthy adults taking part in a Phase 1 trial, according to published results. The oral treatment, being developed by AceLink Therapeutics, also is being tested in…
A woman with Fabry disease was found to have two co-occurring disorders — a heart condition called dilated cardiomyopathy (DCM) and an autoimmune kidney disorder called immunoglobulin A nephropathy (IgAN) — a rare combination. “To the best of our knowledge, this is the first report on such a case,”…
The U.S. Food and Drug Administration (FDA) has advised Sangamo Therapeutics that positive results from a single well-controlled clinical trial, in addition to existing evidence, may be sufficient to form the basis for approving its Fabry disease gene therapy candidate. For Sangamo, that means that one…
The investigational gene therapy ST-920 (isaralgagene civaparvovec) has been well tolerated so far among adults with Fabry disease in the Phase 1/2 STAAR clinical trial, according to new interim data from its developer Sangamo Therapeutics. One-year data from more than a dozen…
Among people receiving medical care for chronic kidney diseases, a small fraction have Fabry disease, a new study highlights. To ensure these patients get optimal treatment, it’s critical to have screening programs in place to provide a prompt diagnosis — especially early on — according to researchers. “Although the…
A year of treatment with Elfabrio (pegunigalsidase alfa) is well tolerated and slows the progression of kidney disease in men and women with Fabry disease, according to final published data from the BRIDGE Phase 3 clinical trial. The enzyme replacement therapy (ERT) from Protalix BioTherapeutics and Chiesi Global Rare…
Identifying small nerve fiber involvement early in Fabry disease (FD) could be critical to enabling timely diagnosis and treatment, according to a recent report. An array of clinical, sensory, and nerve function tests were used to identify signs of small nerve fiber neuropathy (SFN), or symptoms of nerve damage,…
In 2023, Fabry Disease News brought readers consistent coverage of the most recent developments in scientific research and clinical trials for Fabry disease. Here are the 10 most-read news stories of the year, along with a brief description of what made them relevant for our readers. No. 10…
A mutation in the GLA gene associated with Fabry disease was found by Italian researchers in a woman with end-stage kidney disease, according to a case report study. The 52-year-old woman was the sole family member with the disease-causing variant, meaning it was a de novo variant that wasn’t inherited…
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