Updates

September 9, 2019September 9, 2019
Pregnancy May Exacerbate Symptoms of Recessive Form of Alport Syndrome, Case Report Shows

Pregnancy may exacerbate the impact of COL4A4 gene mutations in women who have recessive, or non-symptomatic forms of Alport syndrome, a case report shows. ... Read more
September 2, 2019September 2, 2019
‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. ... Read more
August 28, 2019August 28, 2019
At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially ... Read more
August 26, 2019August 26, 2019
New Kidney Cell Model May Be Useful For Understanding Diseases Such as Alport Syndrome, Study Shows

A newly developed model of kidney filtration may help researchers better understand kidney diseases such as Alport syndrome and could also be useful for ... Read more
August 19, 2019
Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one ... Read more

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News

2nd Hypertension Treatment Seen to Ease Kidney Fibrosis in Mice, Possibly via Signaling Molecule
August 12, 2019August 12, 2019
An angiotensin receptor blocker approved to treat high blood pressure, called Benicar (olmesartan), may ...
News

Next-generation Sequencing Better for Genetic Testing of AS, Study Finds
August 5, 2019August 5, 2019
Next-generation sequencing (NGS) offers more advantages over conventional Sanger sequencing for the genetic testing ...
News

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
August 1, 2019
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, ...
News

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card
August 1, 2019
Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of ...
News

X-linked Alport Syndrome Explains Blood in Urine of Man with Rheumatoid Arthritis, Study Reports
July 29, 2019July 29, 2019
Genetic tests led to the diagnosis of X-linked Alport syndrome in a man with ...
News

Rare Genetic Mutation Leads to Severe X-linked Alport Syndrome in 10-year-old Boy, Case Study Finds
July 22, 2019July 22, 2019
A rare type of mutation in the COL4A5 gene in a young boy led to ...

European Initiative Targets Diagnosis, Treatment of Rare Diseases
July 19, 2019
A new international consortium based in Paris, and funded largely by the 28-member European ...
Review Provides Insight into Alport Patient and Research Communities
July 15, 2019July 16, 2019
The care of Alport syndrome patients at specific critical junctions — diagnosis, transition ...
Macedonian Gaucher Activist Publicizes Plight of Rare Disease Patients
July 10, 2019
New COL4A5 Mutation Linked to X-linked Alport in Chinese Family
July 8, 2019July 8, 2019
World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients
July 3, 2019July 3, 2019
Sulfatides May Play Important Role in Early Stages of Alport Syndrome, Mouse Study Says
July 2, 2019July 2, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala
June 26, 2019June 26, 2019
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy ...
Ongoing Research Testing Several New Therapies for Alport Syndrome
June 24, 2019June 24, 2019
Eurordis Unveils Integrated-care Initiative for Rare Disease Patients
June 20, 2019
‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy
June 17, 2019

New Mutations, Possible Links to Alport Syndrome Progression Found in Chinese Families, Study Shows
June 17, 2019June 17, 2019
Researchers have found six new mutations underlying Alport syndrome (AS) in seven Chinese families, ...
Alport Diagnosed in Woman with Chronic Kidney Disease, Case Report Shows
June 3, 2019June 3, 2019
Agency Unveils RaDaR to Help Patient Groups Develop Rare Disease Registries
May 27, 2019May 27, 2019

News

Certain Patients with Alport Syndrome at Risk for Hypertensive Disease, Study Finds
May 20, 2019May 20, 2019
Patients with X-linked or autosomal recessive Alport syndrome are at risk for developing hypertensive ...
News

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns
May 15, 2019
With 250 rare diseases newly identified every year, scientists can barely keep up — ...
News

Patient Enrollment Completed for CARDINAL Study Testing Bardoxolone for Improving Kidney Function
May 13, 2019May 13, 2019
Reata Pharmaceuticals has completed patient enrollment for Phase 3 of its CARDINAL study investigating ...
News

Young Patients with Alport Syndrome at Higher Risk for Kidney Infections with BK Virus after Transplant, Study Finds
April 22, 2019April 22, 2019
Children and adolescents with Alport syndrome who underwent kidney transplants are at higher risk ...
News

XLAS Patients with ARAS Mutations are Rare, but They may Experience Worse Symptoms, Small Study Shows
April 15, 2019April 15, 2019
Patients with X-linked Alport syndrome who have mutations in their COL4A3 or COL4A4 genes — characteristic of autosomal ...
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 ...

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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