Lindsey Shapiro, PhD, science writer —

Researchers in England are working toward identifying and addressing barriers to reaching a Fabry disease diagnosis among underrepresented communities, particularly within ethnic minority and low socioeconomic status groups. The project is spearheaded by Richard Steeds, MD, a professor at the University of Birmingham and consultant cardiologist at University Hospitals…

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 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,…

The U.S. Food and Drug Administration (FDA) has cleared a Phase 1/2a trial to test uniQure‘s gene therapy candidate AMT-191 in a small group of people with Fabry disease. UniQure says it expects that enrollment in the U.S.-based trial — which will recruit six patients in all —…

About a third of Fabry disease patients were found to have low levels of antibodies against a substance called polyethylene glycol, or PEG, that’s present in Elfabrio (pegunigalsidase-alfa), an enzyme replacement therapy approved in the U.S. earlier this year as a treatment for the genetic disorder. However, these…

The National Institute for Health and Care Excellence (NICE) in England has recommended that Elfabrio (pegunigalsidase alfa) be covered by the country’s national health service (NHS) and provided at low or no cost to adults with Fabry disease. About 1,150 people in England are estimated to have Fabry,…

Problems moving food through the gastrointestinal system didn’t largely account for gastrointestinal (GI) symptoms in Fabry disease patients, a recent study shows. The symptoms, which have an impact on patients’ quality of life, may instead arise from dysfunction in the nerve cells that control gut reflexes. The study, “…

Researchers have developed a novel treatment — an experimental substrate reduction therapy, or SRT — that may hold promise for Fabry disease, according to a new preclinical study. The treatment is designed to reduce levels of Gb3 synthase (Gb3S), an enzyme involved in the production of globotriaosylceramide (Gb3), which…