Updates

May 20, 2019May 20, 2019
Certain Patients with Alport Syndrome at Risk for Hypertensive Disease, Study Finds

Patients with X-linked or autosomal recessive Alport syndrome are at risk for developing hypertensive disease, which may also worsen their disease symptoms, a study ... Read more
May 15, 2019
Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose ... Read more
May 13, 2019May 13, 2019
Patient Enrollment Completed for CARDINAL Study Testing Bardoxolone for Improving Kidney Function

Reata Pharmaceuticals has completed patient enrollment for Phase 3 of its CARDINAL study investigating the safety and efficacy of bardoxolone methyl (bardoxolone) for improving ... Read more
April 22, 2019April 22, 2019
Young Patients with Alport Syndrome at Higher Risk for Kidney Infections with BK Virus after Transplant, Study Finds

Children and adolescents with Alport syndrome who underwent kidney transplants are at higher risk for developing kidney infections by BK virus, a South Korean ... Read more
April 15, 2019April 15, 2019
XLAS Patients with ARAS Mutations are Rare, but They may Experience Worse Symptoms, Small Study Shows

Patients with X-linked Alport syndrome who have mutations in their COL4A3 or COL4A4 genes — characteristic of autosomal recessive forms of the disease — are rare but may ... Read more

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News

Eye Exams Looking at Lens Diameter and Power May Help in Diagnosing Alport, Study Says
April 8, 2019April 8, 2019
People with Alport syndrome who do not have the eye abnormalities usually found in ...
News

miR-21 May Be Therapeutic Target For Kidney Disease In Alport Syndrome
April 1, 2019April 1, 2019
A microRNA — a small RNA molecule that helps regulate how other genes are ...
News

Mutations in Non-collagen Genes Can Worsen Alport-related Kidney Problems, Study Suggests
March 25, 2019March 25, 2019
Although typically not considered a cause of Alport syndrome, mutations in the LAMA5 gene, in ...
News

Advocates from Kidney Organizations Gather for Summit in D.C.
March 18, 2019March 18, 2019
Some 100 advocates from kidney organizations around the country converged on Capitol Hill recently ...
News

Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn
March 14, 2019March 14, 2019
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will ...
News

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist
March 12, 2019March 12, 2019
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn ...

NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research
March 11, 2019March 11, 2019
Rare diseases affect about 30 million Americans — roughly the same number as those ...
Children with Alport Show Macular Thinning and Other Eye Changes, Study Reports
March 4, 2019March 4, 2019
Children with Alport syndrome showed significant thinning of the macula, the central part of ...
WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
February 25, 2019February 25, 2019
Gene Therapy Aiming to Restore COL4 Protein Not Likely to Succeed, Study in Mice Reports
February 25, 2019February 25, 2019
Vienna to Host RARE2019 Meeting on Rare Diseases
February 20, 2019
Report Identifies New COL4A4 Variant, Highlights Next Generation Sequencing
February 18, 2019February 18, 2019

Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide
February 12, 2019February 12, 2019
Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities ...
ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration
February 5, 2019February 6, 2019
New Mice Model Mimics Features of Human XLAS
February 4, 2019February 4, 2019
FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases
February 1, 2019February 1, 2019

Potential Alport Biomarkers, Treatment Targets Identified in Stem Cell Analysis
January 28, 2019January 28, 2019
Using stem cells derived from Alport syndrome (AS) patients to examine their genetic and protein ...
Co-occurrence of aHUS, TMA, and Alport Syndrome Suggest Shared Mechanism, Case Report Says
January 21, 2019January 21, 2019
In XLAS, COL4A5 Mutations Determine Progression of Hearing Loss, Study Finds
January 14, 2019January 14, 2019

News

Genetic Testing More Reliable than Hematuria to Determine Alport’s Mode of Inheritance, Case Reports Show
January 7, 2019January 7, 2019
Genetic testing, not hematuria (blood in urine), is the more accurate method to diagnose Alport syndrome and ...
News

Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish
December 21, 2018December 21, 2018
Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures ...
News

Urinary Levels of CD80 Protein Not Suitable to Distinguish Between Types of Kidney Disease, Study Suggests
December 17, 2018December 17, 2018
Increased urinary excretion of the CD80 protein was found in all patients with active ...
News

DNA Sequencing Technique Finds COL4A5 Mutations in 2 Alport Patients With No Relevant Family History
December 10, 2018December 10, 2018
A technique called whole-exome sequencing (WES) that screens the protein-coding region of the DNA ...
Alport syndrome news, News

Newly Identified DDR1 I Inhibitor Can Prevent Kidney Fibrosis, Loss of Function in Alport Syndrome Mice
December 3, 2018December 3, 2018
Inhibition of the DDR1 enzyme with a newly identified small molecule compound can prevent ...
News

Patients in Japan Also Show Good Long-term Survival After Kidney Transplant and No Sign of Alport’s Return, Study Finds
November 26, 2018November 26, 2018
Alport syndrome (AS) patients in Japan undergoing a kidney transplant were found to have long-term survival ...

November 2, 2016

Variants in Certain Gene Might Increase Alport Syndrome Severity in Females

News

Variants in the COL4A3 gene may account for Alport syndrome disease severity in female patients, according to a new study. The study, “Female X-Linked Alport Syndrome With Somatic Mosaicism,” was published in the journal Clinical Experimental Nephrology. Alport syndrome is ... Read more

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