Marta Figueiredo, PhD, science writer —

Juvenile idiopathic arthritis or JIA, the most frequent chronic inflammatory arthritis disorder affecting children, may co-occur with Fabry disease, according to a study of children with JIA in Brazil. While early Fabry symptoms may resemble those of JIA — and may lead to misdiagnoses — in this study,…

One year of treatment with PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy (ERT), was at least as effective as Fabrazyme (agalsidase beta) at preventing kidney function decline in adults with Fabry disease, interim data from the BALANCE Phase 3 clinical trial show. These findings add to the growing body…

The U.S. Food and Drug Administration (FDA) has rejected Protalix BioTherapeutics and Chiesi Global Rare Diseases’ request for accelerated approval of PRX-102 (pegunigalsidase alfa) as the first plant-based, every-other-week enzyme replacement therapy (ERT) for adults with Fabry disease. This decision was not related to any concerns with the safety or effectiveness of PRX-102 shown…

A Phase 1/2 clinical trial evaluating the investigational gene therapy 4D-310, developed by 4D Molecular Therapeutics (4DMT) for people with Fabry disease, has dosed its first patient. The trial (NCT04519749) is currently enrolling men with Fabry at four sites across the U.S. These study locations are the Children’s…

NanoGLA — a potentially more effective version of enzyme replacement therapy that delivers the missing enzyme in Fabry disease through tiny fatty vesicles — has been designated an orphan drug by the European Commission. The decision was based on a positive recommendation by the Committee for Orphan Medicinal Products, a branch of…

A once-a-month regimen of the investigational enzyme replacement therapy (ERT) PRX-102 (pegunigalsidase alfa) is safe and effective at maintaining disease stability in adults with Fabry disease, top-line data from the BRIGHT Phase 3 trial show. All were previously being treated twice a month with a commercially available ERT. “Patients…

Freeline Therapeutics has developed a more robust test to detect the presence of neutralizing antibodies that affect the effectiveness of enzyme replacement therapy (ERT) or gene therapy in people with Fabry disease. The new test fulfills an unmet need for a standard, reliable positive sample (used as a…

One year of treatment with PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy (ERT), safely and effectively slowed kidney disease progression in adults with Fabry disease who were previously treated with Replagal (agalsidase alpha), according to final results from the Phase 3 BRIDGE clinical trial. Data also…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

Using only an age-dependent threshold of estimated glomerular filtration rate (eGFR) — a marker of kidney function — indicating mild-to-moderate kidney disease is insufficient to effectively screen for undiagnosed Fabry disease patients among the general population, a study shows. The findings suggest that appropriate screening likely wil require evidence…