Author Archives: Marta Figueiredo PhD

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…

More than half of male patients with classic Fabry disease develop neutralizing antibodies against enzyme replacement therapy (ERT), affecting its effectiveness, according to a study from Japan. This development appeared to be associated significantly with the presence of nonsense mutations in GLA — the mutated gene in Fabry disease…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

Switching from enzyme replacement therapy (ERT) to Galafold (migalastat) is a valid and safe therapeutic option for Fabry disease patients with Galafold-amenable mutations, according to a real-life study from Italy. Notably, the data showed that Galafold resulted in greater and significant improvements in patients’ heart size and kidney function,…