Marisa Wexler, MS,  senior science writer—

Note: This story was updated Jan. 17, 2022, to note that Avrobio is deprioritizing its Fabry program.   Avrobio is stopping its gene therapy program for Fabry disease in favor of clinical programs for other disorders, including cystinosis and Gaucher disease type 1. According to a company …

A man living with Fabry disease for more than two decades was found to have a second co-occurring genetic condition called polycystic kidney disease, according to a recent report. “This case demonstrates the possibility of two [genetic kidney diseases] in the same individual and the risk of one diagnosis…

Protalix BioTherapeutics has requested a type A meeting with the U.S. Food and Drug Administration (FDA) to discuss a path forward for approval of PRX-102 (pegunigalsidase alfa), an investigational therapy for Fabry disease that was rejected by the regulatory agency earlier this year. The meeting is expected…

Family genetic testing can help to diagnose people with rare genetic conditions like Fabry disease, but there still are several barriers to implementing family genetic testing worldwide, according to an international panel of researchers who are using their experiences to share strategies for improving such testing. The review, “…

A new infusion protocol that gradually reduces the amount of time needed for the delivery of the Fabry disease therapy Fabrazyme (algasidase beta) is safe and well-tolerated, a study reports. The study, “Stepwise shortening of agalsidase beta infusion duration in Fabry disease: Clinical experience with infusion…

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

Enzyme replacement therapy (ERT) may not effectively manage all aspects of Fabry disease in all patients, particularly when started at more advanced ages, a new study indicates. The findings highlight the need to start treatment early, its researchers said. The study, “Variable clinical features of patients with…

Cysts in the kidneys are more common in people with Fabry disease than in other diseases that affect the kidneys, which is why a new study suggests that looking for such cysts could aid in the diagnosis of Fabry. The study, “Renal Ultrasound contributes to Fabry…

A charitable program can help people with lysosomal storage disorders, such as Fabry disease, who live in underserved communities worldwide gain access to essential treatments, a study reports. The study, “A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide,” was published in…

With data now reaching up to 3.5 years, benefits are continuing to be reported with the use of AVR-RD-01, Avrobio‘s experimental gene therapy for Fabry disease, in Phase 1 and 2 clinical trials, the company announced. Avrobio plan to meet with the U.S. Food and Drug Administration (FDA) to…