Updates

September 21, 2018
#NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington

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 ... Read more
September 17, 2018September 17, 2018
Alport Syndrome Screening in Adults May Be Critical to Enhance Care of Their Offspring, Study Suggests

Atypical presentation of Alport syndrome is common among mothers of children with the disease, researchers reported in a study published in the journal Nephron. ... Read more
September 10, 2018September 10, 2018
American Kidney Fund Website Now Includes Information on Alport, Other Rare Kidney Diseases

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 ... Read more
August 27, 2018August 27, 2018
More Studies Urged to Classify Gene Mutations Before Diagnosing Alport Syndrome

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 ... Read more
August 20, 2018August 20, 2018
Patients’ Stem Cells a Potential New Cell Model for Alport Research, Study Suggests

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

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News

Alport Syndrome and Its Challenges Focus of Early August Meeting with FDA
August 13, 2018August 13, 2018
The National Kidney Foundation (NKF) recently held a patient-focused drug development meeting concerning Alport syndrome ...
News

Recognition of Inheritance Patterns in XLAS Critical for Proper Diagnosis, Care, Case Report Shows
August 6, 2018August 6, 2018
Genetic evaluation of direct family members of Alport syndrome patients is an important step ...
News

Phase 2 Trial Data Show Bardoxolone’s Potential to Reverse Kidney Damage in Alport Syndrome
July 30, 2018July 30, 2018
One year of treatment with Reata Pharmaceuticals’ bardoxolone methyl can reverse the damaging effects ...
News

Anonymous $10K Grant Will Provide Surrogacy for Alport Syndrome Patient
July 23, 2018July 23, 2018
An anonymous donor’s $10,000 gift to Path2Parenthood will help a woman with Alport syndrome ...
News

Urinary EGF Levels Could Help Predict Alport Syndrome Progression in Children, Study Suggests
July 16, 2018July 16, 2018
Measuring epidermal growth factor (EGF) in the urine, in addition to other standard biomarkers, ...
News

Regulus Pauses Clinical Program of RG-012 as Treatment for Alport Syndrome
July 9, 2018July 9, 2018
Regulus Therapeutics has suspended recruitment activities for the RG-012 clinical program in patients with Alport ...

COL4A5 Gene Abnormalities May Help Predict Renal Prognosis of XLAS Patients, Study Suggests
July 2, 2018July 9, 2018
Mutations in the COL4A5 gene that lead to the production of shorter versions of ...
Small Molecule Seen to Slow Alport’s Progression in Mouse Model of Disease
June 25, 2018June 25, 2018
A small-inhibitor molecule targeting a protein called lysyl oxidase like-2 or LOXL2 was seen ...
EU Grants Bardoxolone Orphan Drug Status as Potential Alport Therapy, Phase 3 Trial Enrolling
June 18, 2018June 18, 2018
Rare Eye Symptoms of Alport Syndrome Linked to COL4A4 Mutation in Portuguese Woman
June 11, 2018June 11, 2018
US ‘Right to Try’ Law Meets with Mix of Praise and Criticism, Including Among Those with Rare Diseases
June 4, 2018June 4, 2018
Proposed Large Gene Panel Analysis Helps Diagnose Alport, Other Inherited Kidney Diseases, Study Shows
June 4, 2018June 4, 2018

#ERDC2018 – When Treating Rare Disease Patients, Don’t Overlook Quality of Life, Panel Urges
May 29, 2018May 29, 2018
Finding treatments and potential cures for rare diseases is crucial, but so is the ...
Recurrence of Kidney Inflammation a Risk Factor for Kidney Rejection After Transplant, Study Shows
May 21, 2018May 21, 2018
‘Rare Impact Awards’ Dinner Marks Orphan Drug Act and NORD at 35
May 17, 2018May 17, 2018
#ECRD2018 – EU Must Do More for Rare Disease Patients, Eurordis Leaders Say
May 16, 2018

Severe Alport Mutations Do Not Affect Kidney Transplant Outcomes, Study Shows
May 14, 2018May 14, 2018
Although the type of genetic mutations causing Alport syndrome influences disease progression and severity, ...
Article Questioning Safety of Phase 3 Bardoxolone Trial ‘Inaccurate,’ Reata CMO Says
May 10, 2018May 10, 2018
#ECRD2018 – Patient Access and Collaboration Focus of Eurordis Meeting May 10-12
May 4, 2018May 4, 2018

News

Experts Raise Concerns Over Bardoxolone’s Long-term Safety in Alport Patients
April 30, 2018April 30, 2018
The safety and effectiveness of the investigational therapy bardoxolone methyl as a treatment for Alport syndrome ...
News

Variations Between Alport, Pierson Syndromes Explain Kidney Damage Differences
April 23, 2018April 23, 2018
While Alport syndrome and Pierson syndrome are two diseases caused by mutations in genes important ...
News

Bardoxolone Methyl Continues to Aid Alport Patients with Kidney Disease, New Data Shows
April 16, 2018April 16, 2018
New results from the Phase 2/3 CARDINAL trial continue to support the benefits of ...
News

NIH Agency Pioneers Collaborative Research into Rare Diseases
April 12, 2018
A little-known government entity within the National Institutes of Health (NIH) is helping to ...
News

Researchers Find Potential Therapeutic Target for Alport Syndrome in Mouse Study
March 26, 2018March 26, 2018
Researchers found that the absence of the protein osteopontin (OPN) improved kidney function, eye ...
News

New System Proposed for Classifying Collagen IV Gene Disorders as Types of Alport
March 23, 2018March 23, 2018
An international group of experts has proposed a new classification system for genetic diseases ...

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