News

Exposing a mouse model of Alport syndrome to the naturally occurring factor pentraxin-2 slowed progression of kidney disease and increased mice lifespan, say researchers at the University of Washington in Seattle. Their findings, published in the journal JCI Insight, suggest that pentraxin-2 could potentially treat chronic fibrotic kidney disease. Speculating on…

Regulus Therapeutics, a pharmaceutical company dedicated to the development of microRNA treatments, announced that the design of the Phase 2 clinical program to test its product RG-012 as a potential therapy for Alport syndrome has been subject to changes aimed at speeding up patient enrollment and improving result analysis so that…

Regulus Therapeutics has completed dosing of its Alport syndrome drug candidate RG-012 in a Phase 1 trial testing several ascending doses of the treatment in healthy volunteers. The treatment was found safe and well-tolerated, and no serious adverse events were seen during the trial. The company also announced it…

The Alport Syndrome Foundation (ASF) welcomes all who are interested to take part in its 2nd Annual Virtual Walk, a fundraising event to help fight Alport syndrome. Virtual walk participants can walk anytime, anywhere, and with anyone. There’s no cost to participate. Anyone who wants to take part can register here for…

Genetic screening helps in diagnosing Alport syndrome, a difficult-to-diagnose disease, although its rate of success is still far from ideal and mutations in at least one-fifth of all patients are not identified. But state-of-the-art genetic screen techniques, such as whole-exome sequencing, seem to offer better chances of success, according to a study published…

Fifteen new mutations and two new deletions have been identified in three genes that encode for type 4 collagen in Alport syndrome patients. These new findings are now added to the already known spectrum of mutations associated with Alport syndrome and may help to improve disease prognosis as a result…

Reata Pharmaceuticals is investigating bardoxolone methyl as a potential treatment for chronic kidney disease (CKD) triggered by Alport syndrome. The CARDINAL (NCT03019185) Phase 2/3 clinical trial — which is currently recruiting patients — aims to determine the safety, tolerability and effectiveness of oral bardoxolone methyl in slowing, halting and possibly…

A single-point mutation in a critical gene, AMMECR1, is responsible for the physical expression of the main symptoms associated with Alport syndrome, researchers report. This finding is detailed in the study “AMMECR1: a single point mutation causes…

The Alport Syndrome Foundation is one of 14 patient advocacy organizations that has received Global Genes‘ 2017 RARE Patient Impact Grants, for their work supporting patient communities of rare diseases. The initiative was launched at the 2015 RARE Tribute to Champions of Hope to offer financial support to patient advocacy…

RG-012, a drug to treat renal function decline in patients with Alport syndrome, is moving into Phase 1 clinical trial, says its developer, Regulus Therapeutics. The company, based in La Jolla, Calif., expects this new trial to overcome the setback announced last November on its RG-012 Phase 2 study,…