Updates

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
April 8, 2019April 8, 2019
Eye Exams Looking at Lens Diameter and Power May Help in Diagnosing Alport, Study Says

People with Alport syndrome who do not have the eye abnormalities usually found in this disease may still have a significantly smaller diameter in ... Read more
April 1, 2019April 1, 2019
miR-21 May Be Therapeutic Target For Kidney Disease In Alport Syndrome

A microRNA — a small RNA molecule that helps regulate how other genes are expressed — is present at high levels in the kidneys ... Read more
March 25, 2019March 25, 2019
Mutations in Non-collagen Genes Can Worsen Alport-related Kidney Problems, Study Suggests

Although typically not considered a cause of Alport syndrome, mutations in the LAMA5 gene, in combination with those in collagen IV (COL4) genes, can affect ... Read more
March 18, 2019March 18, 2019
Advocates from Kidney Organizations Gather for Summit in D.C.

Some 100 advocates from kidney organizations around the country converged on Capitol Hill recently to press lawmakers to improve patient outcomes for the 30 ... Read more

Subscribe to our mailing list

Get regular updates delivered to your email box.

Thanks! Please check your email for a confirmation email.

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 ...
News

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 ...
News

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 ...
News

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
February 25, 2019February 25, 2019
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government ...
News

Gene Therapy Aiming to Restore COL4 Protein Not Likely to Succeed, Study in Mice Reports
February 25, 2019February 25, 2019
Targeted gene therapy on cells that line the blood vessels — called endothelial cells ...

Vienna to Host RARE2019 Meeting on Rare Diseases
February 20, 2019
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city ...
Report Identifies New COL4A4 Variant, Highlights Next Generation Sequencing
February 18, 2019February 18, 2019
A new variant (mutation) of the COL4A4 gene was identified as the cause of ...
Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide
February 12, 2019February 12, 2019
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
Genetic Testing More Reliable than Hematuria to Determine Alport’s Mode of Inheritance, Case Reports Show
January 7, 2019January 7, 2019

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 ...
Urinary Levels of CD80 Protein Not Suitable to Distinguish Between Types of Kidney Disease, Study Suggests
December 17, 2018December 17, 2018
DNA Sequencing Technique Finds COL4A5 Mutations in 2 Alport Patients With No Relevant Family History
December 10, 2018December 10, 2018

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 ...
News

Careful Donor Evaluation Can Improve Alport Patients’ Kidney Transplant Outcomes
November 19, 2018November 19, 2018
Kidney transplantation in those with Alport syndrome may have better patient and graft survival ...
News

Sanofi Acquires Global Rights to RG-012, Investigational Alport Syndrome Therapy
November 12, 2018November 12, 2018
Under a restructured agreement with Regulus Therapeutics, Sanofi Genzyme now has sole responsibility for the ...
News

Alport Syndrome Patients Show Progressively Lower Quality of Life Over Time, Study Reports
November 5, 2018November 5, 2018
Patients with chronic kidney disease due to Alport syndrome, particularly women and those with ...
News

#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach
October 29, 2018
With the U.S. midterm elections now less than two weeks away, patient advocacy groups ...

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

Subscribe to our mailing list

Pin It on Pinterest