Author Archives: Magdalena Kegel

To develop meaningful therapies for rare diseases such as Alport syndrome, scientists need to take into account what those with the conditions consider important, two European researchers argued in an opinion piece promoting patient-centered outcomes. Although doctors increasingly consider patients’ perspectives in assessing treatment outcomes, the article argues that scientists have…

A new method of analyzing the activity of COL4A genes in the kidney cells of patients with suspected or confirmed Alport syndrome may  improve molecular diagnostics and prognostic assessments, say researchers at Italy’s University of Siena. The team isolated podocyte cells — which make up the largest part of the kidney…

Japanese researchers have identified a factor that worsens kidney disease in Alport syndrome, just as it does in many other kidney diseases. Scientists could use the molecular changes they identified in a mouse model of Alport to develop treatments for the rare kidney disease, according to the Kumamoto University team. Previous…

The University of Massachusetts (UMass) Medical School is launching the Li Weibo Institute for Rare Diseases Research — an achievement made possible by a $10 million endowment gift from the Li Weibo Charitable Foundation in China. The UMass Medical School has…

In rare cases, Alport syndrome might affect the heart, as suggested by a case report of a woman who experienced a spontaneous coronary artery dissection (SCAD). The condition, which is also rare in other patient groups, had never been described in Alport before. But researchers at the University of South Dakota…

Bromide supplementation might be harmful to Alport syndrome patients if the findings of a study in mice translate into human settings. Researchers at Kumamoto University in Japan found that giving bromide to Alport mice worsened their disease. The results countered an earlier study noting that bromide is a trace element required…

A rare case of combined Alport syndrome and rapidly progressing membranous nephropathy, another kidney disease that affects the kidneys’ filtering mechanism, has prompted researchers to further explore whether the two conditions are related. Other factors, such as infectious disease, could also trigger additional kidney issues in Alport patients, researchers from…

The rate at which patients with Alport syndrome lose their kidney function varies widely between patients and even within the same individual, according to a study in the Canadian Journal of Kidney Health and Disease. This insight is crucial when studying potential interventions in clinical trials, which tend to observe…

Early inflammation probably contributes to the tissue scarring and kidney damage seen in autosomal dominant tubulointerstitial kidney disease, according to an Italian study noting that the same thing occurs in Alport syndrome. Researchers reported that the inflammation they found in animal models of ADTKD has also been seen in mouse…

The Phase 2 portion of a clinical trial exploring Reata Pharmaceuticals’ bardoxolone methyl in patients with chronic kidney disease caused by Alport syndrome showed convincing results, allowing researchers to launch the Phase 3 part of the study. The CARDINAL Phase 2/3 trial has so far recruited 30 patients in…