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…
An imaging technology called 3D echocardiography, which allows clinicians to visualize the heart in three dimensions and measure the strain on heart tissue when the heart beats, may be useful for assessing heart damage among people with Fabry disease. That’s according to the study, “Three-dimensional echocardiographic…
People with Fabry disease commonly have abnormalities in the brain’s blood vessels, such as unusually thick vessel walls or differences in how the vessels respond to changes in oxygen levels in the blood. That’s according to the study, “Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound,” which…
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