A new mouse model of Alport syndrome with slower disease progression may provide a better way to study the disease’s underlying mechanisms and potential therapies, a recent study suggests. The work confirmed the existence of additional genetic factors — potentially the MYO1E gene — influencing Alport’s progression,…
Chinook Therapeutics acquired the global rights for the development and commercialization of AbbVie‘s atrasentan, an investigational compound for the treatment of people with primary glomerular kidney disease, including patients with Alport syndrome. Chinook, a Canadian biotech focused on medicines for kidney diseases, expects to launch…
Tailored gene therapy repaired two mutations associated with Alport syndrome in specialized kidney cells from Alport patients, a preclinical study found. The findings point to patient-specific gene therapy as a potential effective treatment for Alport syndrome. The study, “New frontiers to cure Alport syndrome: COL4A3 and…
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…
Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.
Until he was diagnosed at age 26, Kevin Schnurr had no idea what Alport syndrome was. And even though the worst is now behind him — thanks to a kidney transplant that saved his life — the ultra-rare genetic condition still defines his life and his career. Schnurr, 33,…
The United Kingdom’s Medicines Healthcare Products Regulatory Agency (MHRA) has authorized the first-in-human clinical trial testing Sangamo Therapeutics’ TX200, a cell-based CAR-Treg therapy, in preventing rejection of transplanted kidneys in patients with end-stage renal disease (ESRD). Alport syndrome patients are at high risk of…
Researchers have discovered a new mutation in the COL4A4 gene that leads to the development of Alport syndrome, according to a recent case report. The case report, titled “Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report,” was published in the…
Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…
Get regular updates to your inbox.