News

Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…

Mutations in two genes — COL4A5 and LAMA5 — can explain the range in severity of symptoms experienced by a family of patients with hereditary hematuric (blood in the urine) disease. The study, titled “COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?” was published in the journal BMC…

Topline results from the Phase 2 PHOENIX trial with Reata Pharmaceuticals’ bardoxolone methyl continue to demonstrate its potential to improve the outcome of patients with rare forms of chronic kidney diseases (CKD), including Alport syndrome and type 1 diabetic CKD. The PHOENIX study (NCT03366337) is assessing the safety…

Detailed analysis of inner ear structures in a patient diagnosed with X-linked inherited Alport syndrome reveals particular cochlea features that may contribute to hearing loss among these patients, researchers suggest. The findings of the case report were described in a study published in the journal Laryngoscope Investigative Otolaryngology, titled…

More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…

Atypical presentation of Alport syndrome is common among mothers of children with the disease, researchers reported in a study published in the journal Nephron. This finding suggests that screening for Alport syndrome in those with persistent renal symptoms, in particular those with a family history of renal diseases, may…

The American Kidney Fund (AKF) has expanded the information available on its website, now covering 17 rare diseases assocated with chronic kidney disease (CKD) and end-stage renal disease (ESRD), including Alport syndrome. This was made possible by the support of several educational grants from Alexion Pharmaceuticals, Mallinckrodt…

More studies are needed for the accurate classification of cases of heterozygous — only one gene copy affected — COL4A3 or COL4A4 mutations causing kidney failure, according to an editorial. In the meantime, diagnosing these patients as Alport syndrome should be avoided. The editorial, “Should we diagnose autosomal…

Using induced pluripotent stem cells may help researchers identify the underlying mechanisms of Alport syndrome, according to a new study from Monash University in Austrialia. Researchers developed podocyte-like cells — cells important for the filtering capacity of the kidneys — from two Alport syndrome patients and found that the…

The National Kidney Foundation (NKF) recently held a patient-focused drug development meeting concerning Alport syndrome (AS) with the U.S. Food and Drug Administration (FDA). This meeting was conducted in conjunction with The Alport Syndrome Foundation. The meeting, which was took place Aug. 3 in Hyattsville, Maryland, was the second…