Margarida Maia, PhD,  science writer—

A woman with heart failure due to late-onset Fabry disease received a heart transplant in combination with immunosuppressants and Fabrazyme (agalsidase-beta) to resolve her cardiac symptoms, which didn’t recur after the transplant. “Although the risk of disease recurrence in the transplanted organ appears to be relatively low, this…

A kidney biopsy can be important in diagnosing Fabry disease because it can confirm or rule out the condition when other tests like genetic analysis are inconclusive, according to a report detailing the case of a middle-aged woman in Italy. For this woman, 55, the results helped guide proper…

AL01211 may help stabilize symptoms in men with Fabry disease, while easing pain and improving quality of life, according to interim results from a Phase 2 trial. The trial (NCT06114329), underway at six sites in China, is primarily evaluating the safety of the Acelink Therapeutics treatment. AL01211…

SGLT2 inhibitors, medications approved for diabetes, could be used in Fabry disease to reduce albuminuria, which occurs when damaged kidneys let a large protein called albumin pass into the urine, according to a real-world study in adults with Fabry disease. Because patients were followed for a short period of…

A machine learning algorithm to find patterns in data from infrared spectroscopy — a technique that can provide a molecular fingerprint by looking at how molecules in a sample take up light and reflect it — correctly distinguished people with Fabry disease from healthy adults in a pilot study,…

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,…