News

A 10-year-old boy diagnosed with Fabry disease was also found to have a rare blood disorder called congenital dyserythropoietic anemia (CDA) in a case researchers said was highly unusual. In CDA, anemia, that is, a shortage of red blood cells that transport oxygen in the bloodstream, results in symptoms…

Amicus Therapeutics and Teva Pharmaceuticals have struck a deal that will allow the latter to sell a generic version of Galafold (migalastat), Amicus’ chaperone therapy for Fabry disease, to patients in the U.S. Under the agreement, Teva will have its clearance on Jan. 30, 2037, assuming the…

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…

A wide array of symptoms that affected the kidneys and cardiovascular and nervous systems led to a diagnosis of Fabry disease for a 32-year-old woman, a study in India shows. Given that Fabry has been historically considered a male disease and that women carrying a Fabry-causing mutation may not…

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 National Organization of Rare Disorders (NORD) is offering financial assistance to people with Fabry disease and their caregivers who may be facing challenges in managing treatment and care-related expenses not covered by health insurance. The nonprofit’s initiatives fall under its RareCare patient assistance programs, which were…

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…

People with Fabry disease have higher levels of certain inflammatory cytokines — small proteins that act as chemical messengers of the immune system — in their blood than do healthy individuals, according to a study by researchers in China. Higher blood levels of some of these inflammatory proteins were…

Chiesi Global Rare Diseases is launching a research grant initiative to support innovative studies into Fabry disease, alpha-mannosidosis, and cystinosis — all three of which are lysosomal storage disorders (LSDs). “Whilst the disorders can be rare individually, their prevalence is significant at a global level with an estimated…