News

A new approach involving the analysis of a panel of 140 genes previously linked to kidney disease helped diagnose patients with cystic and glomerular inherited kidney diseases and determine the risk of disease progression, a study has found. This newly proposed, noninvasive tool can assist in the diagnosis of some…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

In patients with acute kidney inflammation, also known as glomerulonephritis, recurrence of the disease is a significant factor underlying failed kidney transplants, a study suggests. The study, “Clinical Outcomes of Kidney Transplantation in Patients With Biopsy-Proven Glomerulonephritis,” was published in the journal Transplantation Proceedings. Clinical outcomes of patients with…

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…

The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…

Although the type of genetic mutations causing Alport syndrome influences disease progression and severity, it does not impact patient outcomes or survival chances after a kidney transplant, a study shows. The study,  “Genotype and Outcome After Kidney Transplantation in Alport Syndrome,” was published at the journal…

An article that reported concerns about the effectiveness and safety of bardoxolone methyl, now in a pivotal study of Alport syndrome patients, are “inaccurate” and “out of date,” according to Colin Meyer, MD, chief medical officer for Reata Pharmaceuticals. Meyer was responding to the article, “Should We Increase GFR with Bardoxolone in…

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

The safety and effectiveness of the investigational therapy bardoxolone methyl as a treatment for Alport syndrome and other renal diseases is controversial, with some experts saying longer and more robust clinical trials are necessary. The article, “Should We Increase GFR with Bardoxolone in Alport Syndrome?” was published in the…

While Alport syndrome and Pierson syndrome are two diseases caused by mutations in genes important for the correct functioning of the kidney’s filtration system, the two diseases have different manifestations. Understanding what these syndromes have in common and what distinguishes them may benefit the design of targeted therapies for each…