News

A large newborn screening (NBS) program in Japan identified 77 potential cases of Fabry disease from 2006 to 2022, according to a study. The number includes infants with genetic mutations known to cause Fabry disease, as well as infants with mutations that might be linked to the condition (variants…

Measurements of subtle eye changes in people with Fabry disease may offer a noninvasive way to support the early diagnosis and long-term monitoring of eye involvement in the rare genetic disorder, a study showed. Researchers found that pupils in people with Fabry recovered more slowly after exposure to light,…

Standard newborn screening tests for Fabry disease regularly miss female infants, leading to delays in their diagnosis and treatment compared with males, a new study reveals. Because current screening relies on measuring enzyme activity, the test is generally less reliable for girls, who…

A new guidebook aims to support young adults living with Fabry disease. The Fabry International Network (FIN) developed the guide in collaboration with a coalition of young adults with Fabry disease from around the world. “This guidebook was built with young adults, not simply for them,” Anna…

Oral treatment with Galafold (migalastat) helped keep kidney and heart function largely stable over years of follow-up in adults with Fabry disease, according to a real-world U.K. study. The therapy also significantly reduced blood levels of lyso-Gb3, a disease biomarker, in both people starting treatment for the first…

A single dose of an RNA-based gene therapy for Fabry disease produced long-lasting levels of the missing key enzyme and reduced the toxic buildup of fatty molecules linked to the disease, according to new preclinical data from Addition Therapeutics. The findings were presented in a poster at the…

The U.S. Food and Drug Administration (FDA) has agreed to meet with Glafabra Therapeutics to discuss plans for clinical testing of GT-GLA-S03, the company’s gene therapy candidate for Fabry disease. The face-to-face meeting, scheduled for July 16, was arranged through the FDA’s INTERACT program, which allows certain developers…

A team of scientists in Spain has developed a new experimental nanoparticle-based treatment approach that aims to address the root cause of Fabry disease through two distinct biological pathways. The new nanomedicine aims to deliver a working copy of the GLA gene, while also reducing production of Gb3, a…

A new experimental gene therapy may boost the production of alpha-galactosidase A (alpha-Gal A) — the enzyme that’s missing or faulty in Fabry disease — beyond the levels of gene therapies now in development. That’s according to laboratory data from a preclinical study that tested the new gene therapy…

A class of medications commonly used to treat heart and kidney disease, called sodium-glucose co-transporter 2 (SGLT2) inhibitors, appears to be safe in adults with Fabry disease and may offer some benefits for heart health, a study suggested. An analysis of outcomes in 48 patients treated with an SGLT2…