Posts by: Jose Marques Lopes, PhD

Jose Marques Lopes, PhD

December 10, 2018December 10, 2018

DNA Sequencing Technique Finds COL4A5 Mutations in 2 Alport Patients With No Relevant Family History

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 ... Read more

November 19, 2018November 19, 2018

Careful Donor Evaluation Can Improve Alport Patients’ Kidney Transplant Outcomes

News

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 ... Read more

November 5, 2018November 5, 2018

Alport Syndrome Patients Show Progressively Lower Quality of Life Over Time, Study Reports

News

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, ... Read more

August 27, 2018August 27, 2018

More Studies Urged to Classify Gene Mutations Before Diagnosing Alport Syndrome

News

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, ... Read more

May 10, 2018May 10, 2018

Article Questioning Safety of Phase 3 Bardoxolone Trial ‘Inaccurate,’ Reata CMO Says

News

An article that reported concerns about the effectiveness and safety of bardoxolone methyl, now in a pivotal study of Alport syndrome patients, are “inaccurate” and “out of date,” according to Colin Meyer, MD, chief ... Read more

March 19, 2018March 19, 2018

Screening Test Raises Possibility of Therapeutic Approach for Alport Syndrome

News

Researchers have developed a high sensitivity, large-scale screening test that suggests a new molecular therapeutic approach for Alport syndrome. The study, “A Split-Luciferase-Based Trimer Formation Assay as a High-throughput ... Read more

July 12, 2017July 13, 2017

Reata’s Bardoxolone for Alport Syndrome Granted FDA Orphan Drug Status

News

Bardoxolone methyl, an investigational treatment for kidney damage associated with Alport syndrome, has been granted orphan drug status by the U.S. Food and Drug Administration (FDA), Reata Pharmaceuticals announced. Bardoxolone methyl (bardoxolone) is ... Read more