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April 16, 2018April 16, 2018

Bardoxolone Methyl Continues to Aid Alport Patients with Kidney Disease, New Data Shows

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New results from the Phase 2/3 CARDINAL trial continue to support the benefits of bardoxolone methyl in improving kidney function in people with chronic kidney disease (CKD) due to ... Read more

April 12, 2018

NIH Agency Pioneers Collaborative Research into Rare Diseases

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A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. ... Read more

March 26, 2018March 26, 2018

Researchers Find Potential Therapeutic Target for Alport Syndrome in Mouse Study

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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 ... Read more

March 23, 2018March 23, 2018

New System Proposed for Classifying Collagen IV Gene Disorders as Types of Alport

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An international group of experts has proposed a new classification system for genetic diseases linked to mutations in the collagen IV a345 molecule, suggesting all conditions are referred to as ... Read more

March 19, 2018March 19, 2018

Genome Sequencing and Its Clinical Potential Focus of NYC Rare Disease Day Event

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Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare ... Read more

March 19, 2018March 19, 2018

Screening Test Raises Possibility of Therapeutic Approach for Alport Syndrome

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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

March 16, 2018

Alport Syndrome Case Study Shows Unusual Transition in Boy’s Kidney

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A 9-year-old boy experienced an unusual transition from a kidney that appeared normal to one with the classical characteristics of Alport syndrome, according to a case study. The article ... Read more

March 14, 2018

‘A Disease May Be Rare, Hope Should Never Be,’ Says Boy with SMARD at Connecticut Rare Disease Day Event

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When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD, for short. Hunter Pageau, a 12-year-old boy from ... Read more

March 14, 2018March 14, 2018

Tailored Chemo Doses Proved Successful for Alport Patient with Breast Cancer in Case Report

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A case report about an Alport syndrome patient with end-stage renal disease diagnosed with early breast cancer emphasizes the need for communication between nephrologists and oncologists to tackle both diseases ... Read more

March 12, 2018

Rare Disease Groups Welcome FDA’s Embrace of ‘Real World’ Data in Clinical Trials

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In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new ... Read more

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