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Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…
G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like Orphanet and the American Epilepsy Society define as including Dravet syndrome. All three designations are among some 70,000 diseases listed in the latest…
A new mice model carrying a COL4A5 gene mutation that mimics many of the clinical features of human X-linked Alport syndrome was developed by Japanese researchers. These animals can now be used to better understand the underlying metabolic and biochemical mechanisms involved in the development and progression of…
The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…
Using stem cells derived from Alport syndrome (AS) patients to examine their genetic and protein profile, scientists identified three factors — microRNA-4775, ELV-like protein 1-A (ELAVL1), and epidermal growth factor receptor (EGFR) — as likely candidates in this genetic disease’s underlying mechanisms, and possible targets for treatments. The study “…
Abnormal activation of the immune system’s complement pathway — a common response to fight germs — may represent a mechanism shared among three distinct kidney conditions, a case report suggests. The rare case report of a patient who showed signs of thrombotic microangiopathy (TMA), Alport syndrome, and atypical…
Hearing loss in male patients with X-linked Alport syndrome (XLAS) is caused by sensorineural deafness that becomes worse with age. Also, the more serious the mutations carried by patients, the higher the degree of their…
Genetic testing, not hematuria (blood in urine), is the more accurate method to diagnose Alport syndrome and determine its mode of inheritance within a family, a review of eight related cases reports. The review study, titled “…
Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…
Increased urinary excretion of the CD80 protein was found in all patients with active kidney diseases, including Alport syndrome, in a recent study, rendering the protein an unreliable diagnostic biomarker to differentiate between renal diseases, the researchers report. The study, “The utility of urinary CD80 as a diagnostic marker in…
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