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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 Alport syndrome. Data from a new analysis of the trial’s Phase 2 part show that significant improvements to the kidneys…
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. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…
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, “…
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 forms of Alport syndrome. The study, “Alport syndrome: a unified classification of genetic disorders of collagen IV…
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 diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…
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 Screening Platform for Therapeutics in Alport Syndrome, “ was published in the journal Cell Chemical Biology. Alport syndrome…
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 about him, “A unique evolution of the kidney phenotype in a patient with autosomal recessive Alport syndrome,” appeared…
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 North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…
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 without compromising the patient’s well-being. The case study, “Treatment of breast cancer in a patient of Alport syndrome-induced chronic…
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 therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…
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