Lindsey Shapiro, PhD, science writer —

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…

A rare pair of mutations were identified as the likely cause of Fabry disease for a young man with cardiac involvement in Japan who was successfully treated with Galafold (migalastat). While the clinical significance of the two mutations has not been well established, researchers believe their combined effects…

Scientists have engineered versions of the alpha-galactosidase A (Gal A) enzyme that could eventually be used to produce a more stable and effective enzyme replacement therapy (ERT) for Fabry disease. In animal models, the modified enzymes lasted longer in the bloodstream and showed better activity in target tissues like…

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…

Daily treatment with the investigational oral therapy venglustat in men with Fabry disease led to significant reductions in globotriaosylceramide (Gb3 or Gl-3) — the fatty molecule that accumulates to toxic levels in the disease — and no signs of disease progression. That’s according to up to three years…