News

Cataract laser surgery may be a way to treat the bulging eye lens that Alport disease can cause, a case study suggests. The report was only the second account of doctors performing the surgery on an Alport patient, researchers at the Cleveland Clinic Cole Eye Institute said. The other case…

Billy Hudson, PhD, a researcher focusing on the Alport syndrome-associated collagen 4, has been awarded the 2018 Distinguished Investigator Prize by the International Society for Matrix Biology. The prize will be presented at the American Society for Matrix Biology Biennial Meeting in Las Vegas October 2018. Hudson led…

Regulus Therapeutics and Sanofi-Genzyme are among companies working on Alport syndrome therapies that can block RNA molecules’ actions. RG-012 is a man-made version of naturally occurring oligonucleotides, or RNA molecules that help regulate gene activity. The synthetic version, called antisense oligonucleotides, binds to RNA, preventing it from functioning normally. But what are…

Analysis of kidney tissue can be an essential step for accurate diagnosis of complex conditions affecting the filtration function of the kidneys, contends a case report published in the journal Transplantation Proceedings. Alport’s Syndrome is a hereditary disease caused by genetic defects in the gene that encodes the several…

A type of stem cell prevents the progression of Alport disease in mice by releasing tiny bubbles that mop up excessive amounts of a factor that promotes blood vessel growth signaling, Los Angeles researchers report. The findings provide new insight into Alport disease mechanisms, the team at Children’s Hospital Los Angeles said.

Retinal thickness may be used to distinguish men with X-linked Alport syndrome from those with a similar but much more benign kidney disease known as thin basement membrane nephropathy, a recent study reports, although differences were not significant enough in women to work as…

Chemical compounds known as small chaperone molecules can prevent the protein-structure abnormalities associated with the most common type of Alport syndrome, Australian researchers report. This leads to normal production of the collagen protein that is missing in the disease. Gene mutations cause collagen to misfold. Naturally occurring chaperone molecules prevent misfolding,…

Australian researchers have identified a protein that is a possible biomarker of the progression of Alport syndrome and similar kidney diseases. They detected higher than normal levels of the protein mindin in the urine of mice with an Alport-like disease. Those levels reflect increased protein leakage from damaged kidneys, they…

The extent of loss of the COL4A5 protein in the kidneys of Alport syndrome patients is linked to a more severe disease progression, researchers at the Mayo Clinic in Minnesota argue. This feature, however, is not common in patients diagnosed with Alport in adulthood, according to the study,…

The National Organization for Rare Disorders (NORD) says it’s “disappointed and dismayed” after the House of Representatives voted 227-205 last week to repeal the Orphan Drug Tax Credit as part of a U.S. tax reform package. A similar package before the Senate Finance Committee does not repeal the credit…