News

A technique called whole-exome sequencing (WES) that screens the protein-coding region of the DNA enabled the identification of mutations in the COL4A5 gene in two girls with Alport syndrome and no family history of the disease, a case study reports. The study, “De novo mutations…

Inhibition of the DDR1 enzyme with a newly identified small molecule compound can prevent renal tissue scarring and renal function loss in a mouse model of Alport syndrome, a study shows. The study, “DNA-encoded library-derived DDR1 inhibitor prevents fibrosis and renal function loss in a genetic mouse…

Alport syndrome (AS) patients in Japan undergoing a kidney transplant were found to have long-term survival rates similar to patients whose transplant was due to other causes of kidney failure, a study in that country reports. The study, “Long-term survival in Japanese renal transplant recipients with Alport syndrome:…

Kidney transplantation in those with Alport syndrome may have better patient and graft survival rates compared to patients with other causes of end-stage renal disease (ESRD). Available evidence also indicates that careful evaluation of potential donors, particularly for mutations in key Alport genes, is required. The review…

Under a restructured agreement with Regulus Therapeutics, Sanofi Genzyme now has sole responsibility for the development and marketing of the investigational therapy RG-012, currently under evaluation for the treatment of Alport syndrome. The amendment to the prior collaboration agreement between Sanofi and Regulus, RG-012’s initial developer, gives…

Patients with chronic kidney disease due to Alport syndrome, particularly women and those with the X-linked form of the disorder, have a low quality of life that decreases over time, according to a natural history of disease study. Findings of the study, conducted by Regulus Therapeutics, also revealed new…

With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Credit and affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate,…

Variant Pharmaceuticals’ investigational therapy hydroxypropyl beta cyclodextrin (HPβCD) may prevent progressive kidney damage and fibrosis (scarring) in people with Alport syndrome, according to preclinical results in a mouse model of the disease. These findings also support a hypothesis stating that lipid (fat) accumulation in the kidneys contributes to…

Reata Pharmaceuticals will present promising data of its investigational therapy bardoxolone methyl in the treatment of rare forms of chronic kidney disease, including Alport syndrome, the company announced. Results of two Phase 2 clinical trials will be presented through four scientific posters during the annual American Society of…

A new mutation in the COL4A5 gene — the gene involved in X-linked Alport syndrome — was found in a Japanese mother and daughter who had hematuria (blood in the urine), but no other kidney problems or the often observed hearing and vision symptoms, a case report shows. Based…