Margarida Maia, PhD, science writer —

Treatment with Elfabrio (pegunigalsidase alfa), given at more spaced intervals and at a higher dose than that approved for Fabry disease, appears to be safe and effective for adults with stable disease, data from a Phase 3 clinical study suggests. Developed jointly by Chiesi Global Rare Diseases…

Data from an ongoing Phase 1/2 clinical study of ST-920 (isaralgagene civaparvovec), an investigational gene therapy for Fabry disease, could serve as the main evidence for its accelerated approval by the U.S. Food and Drug Administration (FDA), eliminating the need for an additional registrational study to confirm its clinical…

An endomyocardial biopsy, a procedure to obtain a small sample of heart muscle, helped doctors reach a definite diagnosis of Fabry disease in a woman who was thought to have end-stage kidney disease, a complication of Fabry, due to high blood pressure. “Diagnosing Fabry disease can be challenging,…

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to AMT-191, an investigational one-time gene therapy being developed by uniQure to treat Fabry disease, the company announced. This status is granted to treatments developed for rare diseases affecting fewer than 200,000 people in the U.S. It…

Early diagnosis and a quick start to enzyme replacement therapy (ERT) with agalsidase alfa eased a patient’s Fabry disease symptoms, preventing them from getting worse for at least six months. That’s according to a new report from China that detailed the case of a man in his 30s,…

Nearly one-third of Danish patients in Fabry disease registries were found to have poor lung function, with obstructive airflow limitation most common among those with severe disease and smokers, a study found. People with Fabry “frequently develop an obstructive airflow limitation,” which is found “not only in smokers, but…

In 2023, Fabry Disease News brought readers consistent coverage of the most recent developments in scientific research and clinical trials for Fabry disease. Here are the 10 most-read news stories of the year, along with a brief description of what made them relevant for our readers. No. 10…

A man diagnosed in his 60s with late-onset Fabry disease had an “uneventful” recovery after receiving both a heart and a kidney transplant in surgeries seven years apart, according to a new case report. “Heart and kidney transplants can play a major role in patients with Fabry disease who develop…

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…

Measuring the activity of a certain enzyme whose levels are low or absent in Fabry disease may be a useful newborn screening blood test for its diagnosis, a five-year study in Italy suggests. With the test, Fabry disease, which is more common among men than women, was found…