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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

October 10, 2018October 10, 2018

Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments

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Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based ... Read more

October 8, 2018October 8, 2018

COL4A5 and LAMA5 Mutations May Explain Range of Symptoms in Family with Hereditary Hematuric Disease, Study Shows

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Mutations in two genes — COL4A5 and LAMA5 — can explain the range in severity of symptoms experienced by a family of patients with hereditary hematuric (blood in the urine) disease. The ... Read more

October 1, 2018October 1, 2018

Bardoxolone Shows Potential to Treat Rare Forms of CKD in PHOENIX Trial

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Topline results from the Phase 2 PHOENIX trial with Reata Pharmaceuticals’ bardoxolone methyl continue to demonstrate its potential to improve the outcome of patients with rare forms of chronic kidney ... Read more

September 24, 2018September 24, 2018

Study Helps Understand Hearing Loss in Patient with X-linked Alport Syndrome

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Detailed analysis of inner ear structures in a patient diagnosed with X-linked inherited Alport syndrome reveals particular cochlea features that may contribute to hearing loss among these patients, researchers ... Read more

September 21, 2018

#NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington

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More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products ... Read more

September 17, 2018September 17, 2018

Alport Syndrome Screening in Adults May Be Critical to Enhance Care of Their Offspring, Study Suggests

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Atypical presentation of Alport syndrome is common among mothers of children with the disease, researchers reported in a study published in the journal Nephron. This finding suggests that screening ... Read more

September 10, 2018September 10, 2018

American Kidney Fund Website Now Includes Information on Alport, Other Rare Kidney Diseases

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The American Kidney Fund (AKF) has expanded the information available on its website, now covering 17 rare diseases assocated with chronic kidney disease (CKD) and end-stage renal disease (ESRD), including ... Read more

August 27, 2018August 27, 2018

More Studies Urged to Classify Gene Mutations Before Diagnosing Alport Syndrome

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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

August 20, 2018August 20, 2018

Patients’ Stem Cells a Potential New Cell Model for Alport Research, Study Suggests

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Using induced pluripotent stem cells may help researchers identify the underlying mechanisms of Alport syndrome, according to a new study from Monash University in Austrialia. Researchers developed podocyte-like cells ... Read more