News

Japanese researchers have developed a sensitive, less time-consuming and cheaper way to assess the formation of a molecule whose dysfunction is connected with Alport syndrome. The high-throughput screening method evaluates the functioning of  type IV collagen (Col4). It could increase our knowledge of Alport, paving the way to new therapies, the…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…

Alport syndrome is a potential risk factor for pregnancy-related complications, a review indicates. Two implications are that women with the disease should receive counseling before they conceive and doctors should follow them closely during their pregnancy, the researchers said. The study, “Alport syndrome and pregnancy: a case series and…

More severe kidney impairment associated with increased levels of protein in the urine is linked to pregnancy complications and pre-term births in women with Alport syndrome, according to a small Italian study. The study, “Alport syndrome and pregnancy: a case series and literature review,” was published in…

Reata Pharmaceuticals is planning a third-quarter release of key results of a clinical trial assessing bardoxolone methyl‘s ability to treat Alport syndrome-related chronic kidney disease. The company said it expects the 52-week findings from the Phase 3 portion of the Phase 2/3 CARDINAL trial to support the U.S. Food and…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

In recognition of Rare Disease Day 2018, BioNews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…

A rare case of an Alport syndrome patient with end-stage kidney disease and an inherited tumor-causing growth disorder — complicating his eligibility for a kidney transplant was reported. The study, “A patient with MEN1 and end-stage chronic kidney disease due to Alport syndrome: Decision making on the eligibility of…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…

Three different kidney disease types caused by similar genetic alterations may actually represent different stages of disease progression, according to the authors of a study published in Cytogenetic and Genome Research. In the study, “Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV…