Marisa Wexler, MS, senior science writer —

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…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Note: This story was updated Sept. 9, 2020, to reflect that PRX-102 is licensed to Chiesi for all markets, including the U.S. The U.S. Food and Drug Administration (FDA) has accepted for review an application from Chiesi Global Rare Diseases and Protalix BioTherapeutics that asks for approval of…

4D-310, a new gene therapy for Fabry disease that is being developed by 4D Molecular Therapeutics (4DMT), has been granted fast track designation by the U.S. Food and Drug Administration (FDA). This designation is given to investigational therapies that the FDA deems to have…

New clinical trial data support the effectiveness of AVR-RD-01, Avrobio‘s investigational gene therapy for Fabry disease. The data also indicate that Avrobio’s proprietary gene therapy platform plato might be more effective than conventional platforms. Data were shared at the American Society of Gene &…

A mutation called A143T in the alpha-galactosidase A (GLA) gene is likely a cause of type 2 Fabry disease that manifests predominantly as heart problems, a study suggests. The study, “Cardiomyopathy associated with the Ala143Thr variant of the α-galactosidase A gene,” was published in the journal…