News

Kyowa Hakko Kirin, a partner company of Reata Pharmaceuticals, presented positive results from its TSUBAKI study showing that Reata’s investigational therapy bardoxolone methyl significantly improved kidney function in patients with chronic kidney disease (CKD) and type 2 diabetes. The presentation, “Bardoxolone Methyl Improved GFR Measured by Standard…

WASHINGTON — Alport syndrome, a rare genetic disorder that leads to life-threatening kidney damage, also causes hearing loss — yet that part of the disease is poorly understood and receives relatively little attention. Gina Parziale, executive director of the Alport Syndrome Foundation, hopes to change that. “We want to…

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…

Interim results from the Phase 2/3 CARDINAL trial show that using bardoxolone methyl can improve kidney function in patients with Alport syndrome. The results were shared in a poster presentation titled, “Initial Data Report from “CARDINAL”: A Phase 2/3 Study of Bardoxolone Methyl in Patients with Alport…

A new genetic mutation in the COL4A3 gene was identified in a Spanish family and linked to the development of Alport syndrome. According to findings reported in the study, “Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene,”…

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…

The EveryLife Foundation is accepting applications for travel stipends to help those with limited means attend Rare Disease Week on Capitol Hill in Washington in early 2018. The Alport Syndrome Foundation is encouraging patients and caregivers to attend the event in late February and March. It will allow Americans with…

More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…

Rare bilateral eye lens abnormalities without advanced renal manifestations were described in a patient with Alport syndrome in India. The case was described in the article titled “Simultaneous Bilateral Anterior and Posterior Lenticonus in Alport Syndrome,” that was published at the Journal of Clinical…