Author Archives: Joana Fernandes, PhD

Researchers reported the case of a Chinese family who developed Alport syndrome due to a novel mutation in the COL4A4 gene, which was previously unknown to be associated with the disease. Knowing which mutations within the COL4A4 gene lead to Alport syndrome brings valuable insight into the development…

Regulus Therapeutics, a pharmaceutical company dedicated to the development of microRNA treatments, announced that the design of the Phase 2 clinical program to test its product RG-012 as a potential therapy for Alport syndrome has been subject to changes aimed at speeding up patient enrollment and improving result analysis so that…

Reata Pharmaceuticals is investigating bardoxolone methyl as a potential treatment for chronic kidney disease (CKD) triggered by Alport syndrome. The CARDINAL (NCT03019185) Phase 2/3 clinical trial — which is currently recruiting patients — aims to determine the safety, tolerability and effectiveness of oral bardoxolone methyl in slowing, halting and possibly…

Women with Alport syndrome and mild chronic kidney disease (CDK) may have normal pregnancies, according to a study, but more research is necessary to confirm this finding. The study, “Pregnancy Outcomes In Patients With Alport Syndrome,” was published in the journal Archives of Gynecology and Obstetrics. Most Alport…

Using plucked hairs from patients, researchers found a variant in the COL4A5 gene leading to hereditary Alport syndrome. This analysis may constitute a new, less-invasive method for diagnosing the disease. Results of this work were published in the journal Pediatric Nephrology under the title “Functional Assessment Of A…

A young Alport syndrome patient with ocular anomalies improved her vision through an eye surgery called toric multifocal intraocular lens implantation, a procedure that allows the substitution of a deficient eye lens for a tiny, artificial new one. The study, “Toric Multifocal Intraocular Lens Implantation In A Case Of Bilateral Anterior…

Researchers identified a molecular pathway that may contribute to the development of Alport glomerular disease and whose activation may be used as a possible biomarker for the disease, according to a new study. The study, “Endothelin A Receptor Activation On Mesangial Cells Initiates Alport Glomerular Disease,” was published in…

Kidney transplant due to Alport syndrome may be associated with increased production of urine in the first months, according to a case report. This is due to a temporary deficiency in the antidiuretic hormone (ADH) to levels similar to those found in central diabetes insipidus (DI). The study, “Deficiency…

Variants in the COL4A3 gene may account for Alport syndrome disease severity in female patients, according to a new study. The study, “Female X-Linked Alport Syndrome With Somatic Mosaicism,” was published in the journal Clinical Experimental Nephrology. Alport syndrome is characterized by chronic kidney disease that progresses to end-stage…

Timely treatment of kidney failure in Alport patients with different mutations can prevent progression to chronic kidney disease and end-stage failure, researchers reported. The study, “Prospective Study On The Potential Of RAAS Blockade To Halt Renal Disease In Alport Syndrome Patients With Heterozygous Mutations,” was published in the journal Pediatric…