Author Archives: Mary Chapman

While the latest information from the United States Renal Data System (USRDS) is encouraging, it also highlights the need for early care and heightened awareness of kidney disorders such as Alport syndrome, the American Kidney Fund (AKF) said. Likely due to better treatment and prevention, the rate of…

To promote the diagnosis of chronic kidney disease (CKD), genetic information company Invitae and Reata Pharmaceuticals are collaborating to offer free testing and counseling support. Alport syndrome accounts for an estimated 3% of children with CKD and 0.2% of adults with end-stage renal disease in the…

Some 100 advocates from kidney organizations around the country converged on Capitol Hill recently to press lawmakers to improve patient outcomes for the 30 million people living with kidney diseases, including Alport syndrome. Joined by 11-year-old singing ingenue and kidney transplant recipient Angelica Hale, activists from nearly all…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…