Updates

January 20, 2020January 20, 2020
New Mouse Model With Slower Alport Progression May Lead to Better Understanding, Study Says

A new mouse model of Alport syndrome with slower disease progression may provide a better way to study the disease’s underlying mechanisms and potential ... Read more
January 13, 2020January 13, 2020
Chinook Acquires Global Rights to Develop Atrasentan for Alport, Other Kidney Diseases

Chinook Therapeutics acquired the global rights for the development and commercialization of AbbVie‘s atrasentan, an investigational compound for the treatment of people with primary ... Read more
January 6, 2020January 6, 2020
Gene Therapy Repairs Mutations in Kidney Cells from Alport Patients, Study Shows

Tailored gene therapy repaired two mutations associated with Alport syndrome in specialized kidney cells from Alport patients, a preclinical study found. The findings point to ... Read more
December 16, 2019December 16, 2019
US Kidney Disease Data Points to Need for Early Detection and Better Awareness, AKF Says

While the latest information from the United States Renal Data System (USRDS) is encouraging, it also highlights the need for early care and heightened awareness ... Read more
December 9, 2019December 18, 2019
Reata and Invitae Partner to Offer Genetic Testing and Counseling for Chronic Kidney Disease

To promote the diagnosis of chronic kidney disease (CKD), genetic information company Invitae and Reata Pharmaceuticals are collaborating to offer free testing and counseling ... Read more

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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

Updates

New Mouse Model With Slower Alport Progression May Lead to Better Understanding, Study Says

Chinook Acquires Global Rights to Develop Atrasentan for Alport, Other Kidney Diseases

Gene Therapy Repairs Mutations in Kidney Cells from Alport Patients, Study Shows

US Kidney Disease Data Points to Need for Early Detection and Better Awareness, AKF Says

Reata and Invitae Partner to Offer Genetic Testing and Counseling for Chronic Kidney Disease

Subscribe to our mailing list

HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases

NY Kidney Recipient Becomes Spokesman for Alport Syndrome Foundation

Sangamo to Launch First-in-human Clinical Trial Testing TX200 Cell Therapy in End-stage Renal Disease

New COL4A4 Mutation Discovered in Young Boy With Alport Syndrome, Case Report Shows

Rare Disease Film Festival Highlights Patient and Researcher Unity

Bardoxolone May Improve Kidney Function in Alport Patients, Phase 3 Results Suggest

Investigational Cell Therapy FCR001 Shows Promise for Preventing Post-transplant Kidney Failure

Eye Deformity Common in Alport Best Captured Using Optical Coherence Tomography, Case Report Finds

Alport Patients Should be Checked for Eye Condition Keratoconus, Case Study Suggests

Reata Reacquires Rights for Bardoxolone, Other Nrf2 Activators, After Terminating Partnership with AbbVie

COL4A5 Mutation Tied to XLAS Does Not Cause Disease, Study Suggests

Eye Abnormalities Detectable in Exam May Help to Diagnose Alport Syndrome, Study Says

NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC

Alport Patient Shows Improvement After Receiving Kidney from Father Later Found to have ADAS, Study Says

Pregnancy May Exacerbate Symptoms of Recessive Form of Alport Syndrome, Case Report Shows

At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing

New Kidney Cell Model May Be Useful For Understanding Diseases Such as Alport Syndrome, Study Shows

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases

2nd Hypertension Treatment Seen to Ease Kidney Fibrosis in Mice, Possibly via Signaling Molecule

Next-generation Sequencing Better for Genetic Testing of AS, Study Finds

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card

X-linked Alport Syndrome Explains Blood in Urine of Man with Rheumatoid Arthritis, Study Reports

Rare Genetic Mutation Leads to Severe X-linked Alport Syndrome in 10-year-old Boy, Case Study Finds

Variants in Certain Gene Might Increase Alport Syndrome Severity in Females

New Mouse Model With Slower Alport Progression May Lead to Better Understanding, Study Says

Chinook Acquires Global Rights to Develop Atrasentan for Alport, Other Kidney Diseases

Gene Therapy Repairs Mutations in Kidney Cells from Alport Patients, Study Shows

US Kidney Disease Data Points to Need for Early Detection and Better Awareness, AKF Says

Reata and Invitae Partner to Offer Genetic Testing and Counseling for Chronic Kidney Disease

Subscribe to our mailing list

HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases

NY Kidney Recipient Becomes Spokesman for Alport Syndrome Foundation

Sangamo to Launch First-in-human Clinical Trial Testing TX200 Cell Therapy in End-stage Renal Disease

New COL4A4 Mutation Discovered in Young Boy With Alport Syndrome, Case Report Shows

Rare Disease Film Festival Highlights Patient and Researcher Unity

Bardoxolone May Improve Kidney Function in Alport Patients, Phase 3 Results Suggest

Investigational Cell Therapy FCR001 Shows Promise for Preventing Post-transplant Kidney Failure

Eye Deformity Common in Alport Best Captured Using Optical Coherence Tomography, Case Report Finds

Alport Patients Should be Checked for Eye Condition Keratoconus, Case Study Suggests

Reata Reacquires Rights for Bardoxolone, Other Nrf2 Activators, After Terminating Partnership with AbbVie

COL4A5 Mutation Tied to XLAS Does Not Cause Disease, Study Suggests

Eye Abnormalities Detectable in Exam May Help to Diagnose Alport Syndrome, Study Says

NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC

Alport Patient Shows Improvement After Receiving Kidney from Father Later Found to have ADAS, Study Says

Pregnancy May Exacerbate Symptoms of Recessive Form of Alport Syndrome, Case Report Shows

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases

At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing

New Kidney Cell Model May Be Useful For Understanding Diseases Such as Alport Syndrome, Study Shows

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases

2nd Hypertension Treatment Seen to Ease Kidney Fibrosis in Mice, Possibly via Signaling Molecule

Next-generation Sequencing Better for Genetic Testing of AS, Study Finds

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card

X-linked Alport Syndrome Explains Blood in Urine of Man with Rheumatoid Arthritis, Study Reports

Rare Genetic Mutation Leads to Severe X-linked Alport Syndrome in 10-year-old Boy, Case Study Finds

Variants in Certain Gene Might Increase Alport Syndrome Severity in Females