People with Fabry disease who have burning limb pain or depression are more likely to report poor quality of life, a new study shows. Addressing these issues may help them, researchers said in “Screening for health-related quality of life and its determinants in Fabry disease: A…
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, “…
Chiesi Global Rare Diseases and Aliada Therapeutics are teaming up to advance a blood-brain barrier (BBB) crossing platform technology to deliver therapies for lysosomal storage disorders, including Fabry disease. The BBB is a semipermeable membrane that limits what substances can pass from the bloodstream into the brain.
AceLink Therapeutics has opened its first clinical site in China for a Phase 2 clinical trial testing AL01211 as a treatment for Fabry disease. The trial is actively screening and enrolling patients across six sites in China, including Shanghai’s Ruijin Hospital. Five other sites are expected to open by…
A gene therapy treatment increased levels of the deficient alpha-glactosidase A (Gal A) enzyme in the organs of mice in a model of Fabry disease, according to a new study. Results showed the gene therapy approach reduced the toxic buildup of fatty molecules in most organs assessed, but not…
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…
Incorporating a three-tiered approach to newborn screening (NBS) makes it highly feasible for large-scale programs, according to a recent study conducted in Brazil. This comprehensive method — involving enzyme analysis, biomarker examination, and genetic testing — can ensure timely intervention and optimal care for newborns. Using this approach, researchers in…
Researchers have used stem cells as a “cargo ship” to carry genetic information to produce an enzyme that mimics the activity of alpha-galactosidase A, the enzyme missing in Fabry disease, according to a proof-of-concept study in mice. When injected into a mouse model of Fabry disease, this enzyme, called…
Enzyme replacement therapy (ERT) can help to increase the bone density of male patients with Fabry disease, who tend to have lower bone mineral density, a study has found. Female patients, by contrast, were found generally not to have low bone density, and ERT did not substantially change…
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…
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