Updates

June 18, 2018June 18, 2018
EU Grants Bardoxolone Orphan Drug Status as Potential Alport Therapy, Phase 3 Trial Enrolling

The European Commission (EC) has granted orphan drug status to bardoxolone methyl (bardoxolone)as a possible treatment for Alport syndrome, the therapy’s developer, Reata Pharmaceuticals, announced. ... Read more
June 11, 2018June 11, 2018
Rare Eye Symptoms of Alport Syndrome Linked to COL4A4 Mutation in Portuguese Woman

A genetic mutation affecting the COL4A4 gene was linked for the first time to a rare, vision-threatening event in a woman with Alport syndrome. The ... Read more
June 4, 2018June 4, 2018
US ‘Right to Try’ Law Meets with Mix of Praise and Criticism, Including Among Those with Rare Diseases

As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice ... Read more
June 4, 2018June 4, 2018
Proposed Large Gene Panel Analysis Helps Diagnose Alport, Other Inherited Kidney Diseases, Study Shows

A new approach involving the analysis of a panel of 140 genes previously linked to kidney disease helped diagnose patients with cystic and glomerular ... Read more
May 29, 2018May 29, 2018
#ERDC2018 – When Treating Rare Disease Patients, Don’t Overlook Quality of Life, Panel Urges

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that ... Read more

News

Recurrence of Kidney Inflammation a Risk Factor for Kidney Rejection After Transplant, Study Shows
May 21, 2018May 21, 2018
In patients with acute kidney inflammation, also known as glomerulonephritis, recurrence of the disease ...
News

‘Rare Impact Awards’ Dinner Marks Orphan Drug Act and NORD at 35
May 17, 2018May 17, 2018
The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both ...
News

#ECRD2018 – EU Must Do More for Rare Disease Patients, Eurordis Leaders Say
May 16, 2018
The European Union isn’t doing enough to protect the 30 million or so people ...
News

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, ...
News

Article Questioning Safety of Phase 3 Bardoxolone Trial ‘Inaccurate,’ Reata CMO Says
May 10, 2018May 10, 2018
An article that reported concerns about the effectiveness and safety of bardoxolone methyl, now in a ...
News

#ECRD2018 – Patient Access and Collaboration Focus of Eurordis Meeting May 10-12
May 4, 2018May 4, 2018
At least 800 people representing some 45 countries are soon expected to gather in ...

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 ...
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 ...
Bardoxolone Methyl Continues to Aid Alport Patients with Kidney Disease, New Data Shows
April 16, 2018April 16, 2018
NIH Agency Pioneers Collaborative Research into Rare Diseases
April 12, 2018
Researchers Find Potential Therapeutic Target for Alport Syndrome in Mouse Study
March 26, 2018March 26, 2018
New System Proposed for Classifying Collagen IV Gene Disorders as Types of Alport
March 23, 2018March 23, 2018

Genome Sequencing and Its Clinical Potential Focus of NYC Rare Disease Day Event
March 19, 2018March 19, 2018
Genetic sequencing and the speed with which it can help diagnose a child’s disease ...
Screening Test Raises Possibility of Therapeutic Approach for Alport Syndrome
March 19, 2018March 19, 2018
Alport Syndrome Case Study Shows Unusual Transition in Boy’s Kidney
March 16, 2018
‘A Disease May Be Rare, Hope Should Never Be,’ Says Boy with SMARD at Connecticut Rare Disease Day Event
March 14, 2018

Tailored Chemo Doses Proved Successful for Alport Patient with Breast Cancer in Case Report
March 14, 2018March 14, 2018
A case report about an Alport syndrome patient with end-stage renal disease diagnosed with early ...
Rare Disease Groups Welcome FDA’s Embrace of ‘Real World’ Data in Clinical Trials
March 12, 2018
Scientists Develop Better Way to Assess Alport-related Molecule’s Formation
March 12, 2018March 12, 2018

News

US Lawmakers Urge Bipartisan Support for Rare Disease Research, Patients’ Needs
March 9, 2018
At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, ...
News

Alport Syndrome Is Potential Risk Factor for Pregnancy-Related Complications, Study Finds
March 7, 2018
Alport syndrome is a potential risk factor for pregnancy-related complications, a review indicates. Two ...
News

Increased Protein Levels Linked to Pregnancy Complications in Alport Syndrome, Study Shows
March 5, 2018
More severe kidney impairment associated with increased levels of protein in the urine is ...
News

Reata Expects Key Trial Results on Kidney Disease Therapy Bardoxolone in Third Quarter
March 2, 2018March 5, 2018
Reata Pharmaceuticals is planning a third-quarter release of key results of a clinical trial assessing bardoxolone ...
News

Retrophin, Horizon Donate $3M Each to Rare Disease Institute at Children’s National
March 2, 2018
Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million ...
News

BioNews to Cover 3 Rare Disease Day Events, Including NIH Conference
February 28, 2018
In recognition of Rare Disease Day 2018, BioNews Services — which publishes this website ...