News

Researchers have found six new mutations underlying Alport syndrome (AS) in seven Chinese families, as well as drawing possible correlations between the type of mutations involved and disease progression, a study reports. They also found differences between males and females in regards to…

A 53-year-old woman with worsening kidney function was diagnosed with Alport syndrome after an initial suspicion of drug-induced ANCA-associated vasculitis (DIAV), a case study reports. The report, “Incidentally Diagnosed Alport Syndrome in a Patient with Drug-Induced Vasculitis,” appeared in the journal Case Reports in…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

Patients with X-linked or autosomal recessive Alport syndrome are at risk for developing hypertensive disease, which may also worsen their disease symptoms, a study shows. The study, “Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study,” was…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…

Reata Pharmaceuticals has completed patient enrollment for Phase 3 of its CARDINAL study investigating the safety and efficacy of bardoxolone methyl (bardoxolone) for improving kidney function in people with Alport syndrome, the company announced. The Phase 3 part of the CARDINAL trial (NCT03019185), which has enrolled…

Children and adolescents with Alport syndrome who underwent kidney transplants are at higher risk for developing kidney infections by BK virus, a South Korean study suggests. The study, “Higher Incidence of BK Virus Nephropathy in Pediatric Kidney Allograft Recipients with Alport Syndrome,” was published in the Journal of…

Patients with X-linked Alport syndrome who have mutations in their COL4A3 or COL4A4 genes — characteristic of autosomal recessive forms of the disease — are rare but may experience more severe disease,…

People with Alport syndrome who do not have the eye abnormalities usually found in this disease may still have a significantly smaller diameter in the crystalline lens and poorer lens power, a study in seven patients reports. Researchers suggest that these might be signs for ophthalmologists that support an…

A microRNA — a small RNA molecule that helps regulate how other genes are expressed — is present at high levels in the kidneys of people with Alport syndrome. Experiments in mice further suggest that this microRNA could be a therapeutic target for treatment of the disease. The study, “…