News

June 18, 2018June 18, 2018

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

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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. Its effectiveness and safety are ... Read more

June 11, 2018June 11, 2018

Rare Eye Symptoms of Alport Syndrome Linked to COL4A4 Mutation in Portuguese Woman

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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 case of the 40-year-old Portuguese ... 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

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As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third ... Read more

June 4, 2018June 4, 2018

Proposed Large Gene Panel Analysis Helps Diagnose Alport, Other Inherited Kidney Diseases, Study Shows

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A new approach involving the analysis of a panel of 140 genes previously linked to kidney disease helped diagnose patients with cystic and glomerular inherited kidney diseases and determine ... Read more

May 29, 2018May 29, 2018

#ERDC2018 – When Treating Rare Disease Patients, Don’t Overlook Quality of Life, Panel Urges

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

May 21, 2018May 21, 2018

Recurrence of Kidney Inflammation a Risk Factor for Kidney Rejection After Transplant, Study Shows

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In patients with acute kidney inflammation, also known as glomerulonephritis, recurrence of the disease is a significant factor underlying failed kidney transplants, a study suggests. The study, “Clinical Outcomes ... Read more

May 17, 2018May 17, 2018

‘Rare Impact Awards’ Dinner Marks Orphan Drug Act and NORD at 35

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The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. ... Read more

May 16, 2018

#ECRD2018 – EU Must Do More for Rare Disease Patients, Eurordis Leaders Say

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The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in ... Read more

May 14, 2018May 14, 2018

Severe Alport Mutations Do Not Affect Kidney Transplant Outcomes, Study Shows

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Although the type of genetic mutations causing Alport syndrome influences disease progression and severity, it does not impact patient outcomes or survival chances after a kidney transplant, a study ... Read more

May 10, 2018May 10, 2018

Article Questioning Safety of Phase 3 Bardoxolone Trial ‘Inaccurate,’ Reata CMO Says

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An article that reported concerns about the effectiveness and safety of bardoxolone methyl, now in a pivotal study of Alport syndrome patients, are “inaccurate” and “out of date,” according to Colin Meyer, MD, chief ... Read more