News

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…

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…

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…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

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…

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…

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,…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

The first patient dosed with AVR-RD-01, an investigational gene therapy being tested in the ongoing Phase 2 FAB-GT clinical trial in people with Fabry disease, showed a 100% reduction, or complete clearance of toxic substrate, in a kidney biopsy…