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December 10, 2018December 10, 2018

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

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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

December 3, 2018December 3, 2018

Newly Identified DDR1 I Inhibitor Can Prevent Kidney Fibrosis, Loss of Function in Alport Syndrome Mice

Alport syndrome news, News

Inhibition of the DDR1 enzyme with a newly identified small molecule compound can prevent renal tissue scarring and renal function loss in a mouse model of Alport syndrome, a ... Read more

November 26, 2018November 26, 2018

Patients in Japan Also Show Good Long-term Survival After Kidney Transplant and No Sign of Alport’s Return, Study Finds

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Alport syndrome (AS) patients in Japan undergoing a kidney transplant were found to have long-term survival rates similar to patients whose transplant was due to other causes of kidney failure, a ... Read more

November 19, 2018November 19, 2018

Careful Donor Evaluation Can Improve Alport Patients’ Kidney Transplant Outcomes

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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 12, 2018November 12, 2018

Sanofi Acquires Global Rights to RG-012, Investigational Alport Syndrome Therapy

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Under a restructured agreement with Regulus Therapeutics, Sanofi Genzyme now has sole responsibility for the development and marketing of the investigational therapy RG-012, currently under evaluation for the treatment of ... Read more

November 5, 2018November 5, 2018

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

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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

October 29, 2018

#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach

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With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Credit ... Read more

October 29, 2018October 29, 2018

Variant’s Experimental Therapy HPβCD May Halt Kidney Damage in Alport Syndrome, Mouse Study Shows

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Variant Pharmaceuticals’ investigational therapy hydroxypropyl beta cyclodextrin (HPβCD) may prevent progressive kidney damage and fibrosis (scarring) in people with Alport syndrome, according to preclinical results in a mouse model of ... Read more

October 22, 2018October 22, 2018

Reata to Present Promising Results on Bardoxolone Methyl in Treating Alport, Other Kidney Diseases

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Reata Pharmaceuticals will present promising data of its investigational therapy bardoxolone methyl in the treatment of rare forms of chronic kidney disease, including Alport syndrome, the company announced. Results of two ... Read more

October 15, 2018October 15, 2018

New Mutation in the COL4A5 Gene of X-linked Alport Syndrome Found, Case Study Reports

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A new mutation in the COL4A5 gene — the gene involved in X-linked Alport syndrome — was found in a Japanese mother and daughter who had hematuria (blood in the ... Read more