Updates

December 10, 2018December 10, 2018
DNA Sequencing Technique Finds COL4A5 Mutations in 2 Alport Patients With No Relevant Family History

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 ... Read more
December 3, 2018December 3, 2018
Newly Identified DDR1 I Inhibitor Can Prevent Kidney Fibrosis, Loss of Function in Alport Syndrome Mice

Inhibition of the DDR1 enzyme with a newly identified small molecule compound can prevent renal tissue scarring and renal function loss in a mouse ... 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

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 ... Read more
November 19, 2018November 19, 2018
Careful Donor Evaluation Can Improve Alport Patients’ Kidney Transplant Outcomes

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 ... Read more
November 12, 2018November 12, 2018
Sanofi Acquires Global Rights to RG-012, Investigational Alport Syndrome Therapy

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 ... Read more

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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 ...
News

Variant’s Experimental Therapy HPβCD May Halt Kidney Damage in Alport Syndrome, Mouse Study Shows
October 29, 2018October 29, 2018
Variant Pharmaceuticals’ investigational therapy hydroxypropyl beta cyclodextrin (HPβCD) may prevent progressive kidney damage and fibrosis ...
News

Reata to Present Promising Results on Bardoxolone Methyl in Treating Alport, Other Kidney Diseases
October 22, 2018October 22, 2018
Reata Pharmaceuticals will present promising data of its investigational therapy bardoxolone methyl in the treatment ...
News

New Mutation in the COL4A5 Gene of X-linked Alport Syndrome Found, Case Study Reports
October 15, 2018October 15, 2018
A new mutation in the COL4A5 gene — the gene involved in X-linked Alport syndrome ...
News

Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments
October 10, 2018October 10, 2018
Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced ...

COL4A5 and LAMA5 Mutations May Explain Range of Symptoms in Family with Hereditary Hematuric Disease, Study Shows
October 8, 2018October 8, 2018
Mutations in two genes — COL4A5 and LAMA5 — can explain the range in severity of symptoms ...
Bardoxolone Shows Potential to Treat Rare Forms of CKD in PHOENIX Trial
October 1, 2018October 1, 2018
Topline results from the Phase 2 PHOENIX trial with Reata Pharmaceuticals’ bardoxolone methyl continue to ...
Study Helps Understand Hearing Loss in Patient with X-linked Alport Syndrome
September 24, 2018September 24, 2018
#NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington
September 21, 2018
Alport Syndrome Screening in Adults May Be Critical to Enhance Care of Their Offspring, Study Suggests
September 17, 2018September 17, 2018
American Kidney Fund Website Now Includes Information on Alport, Other Rare Kidney Diseases
September 10, 2018September 10, 2018

More Studies Urged to Classify Gene Mutations Before Diagnosing Alport Syndrome
August 27, 2018August 27, 2018
More studies are needed for the accurate classification of cases of heterozygous — only one ...
Patients’ Stem Cells a Potential New Cell Model for Alport Research, Study Suggests
August 20, 2018August 20, 2018
Alport Syndrome and Its Challenges Focus of Early August Meeting with FDA
August 13, 2018August 13, 2018
Recognition of Inheritance Patterns in XLAS Critical for Proper Diagnosis, Care, Case Report Shows
August 6, 2018August 6, 2018

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 ...
Anonymous $10K Grant Will Provide Surrogacy for Alport Syndrome Patient
July 23, 2018July 23, 2018
Urinary EGF Levels Could Help Predict Alport Syndrome Progression in Children, Study Suggests
July 16, 2018July 16, 2018

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 ...
News

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 ...
News

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 ...
News

EU Grants Bardoxolone Orphan Drug Status as Potential Alport Therapy, Phase 3 Trial Enrolling
June 18, 2018June 18, 2018
The European Commission (EC) has granted orphan drug status to bardoxolone methyl (bardoxolone)as a ...
News

Rare Eye Symptoms of Alport Syndrome Linked to COL4A4 Mutation in Portuguese Woman
June 11, 2018June 11, 2018
A genetic mutation affecting the COL4A4 gene was linked for the first time to ...
News

US ‘Right to Try’ Law Meets with Mix of Praise and Criticism, Including Among Those with Rare Diseases
June 4, 2018June 4, 2018
As President Trump signed the recently passed Right to Try legislation into law in ...

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