Author Archives: Marta Figueiredo

A new mouse model of Alport syndrome with slower disease progression may provide a better way to study the disease’s underlying mechanisms and potential therapies, a recent study suggests. The work confirmed the existence of additional genetic factors — potentially the MYO1E gene — influencing Alport’s progression,…

Tailored gene therapy repaired two mutations associated with Alport syndrome in specialized kidney cells from Alport patients, a preclinical study found. The findings point to patient-specific gene therapy as a potential effective treatment for Alport syndrome. The study, “New frontiers to cure Alport syndrome: COL4A3 and…

A given mutation in the COL4A5 gene — the gene involved in X-linked Alport syndrome — is likely not a disease-causing (pathogenic) defect although it has been identified as such, a study from China reports. Its researchers suggest that the presence of this mutation, called c.2858G>T and common to people of…

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:…

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…

Researchers found that the absence of the protein osteopontin (OPN) improved kidney function, eye structure, and hearing ability in a mouse model of Alport syndrome. Osteopontin is part of a newly discovered pathway that may be a potential therapeutic target to treat the disease. The study, “…