News

Reata Pharmaceuticals’ investigational therapy bardoxolone methyl may effectively improve and preserve renal function in patients with chronic kidney disease caused by Alport syndrome, topline results from a Phase 3 clinical trial show. The pivotal trial, called CARDINAL (NCT03019185), met both its primary and secondary objectives. Namely, patients…

Results from a Phase 2 clinical trial support the potential of Talaris Therapeutics’ investigational cell therapy FCR001 to prevent recurrence of kidney failure in patients who have undergone a living donor kidney transplant, including patients with Alport syndrome. The data were presented at the…

A common eye abnormality of Alport syndrome (AS), called anterior lenticonus, can best be diagnosed by a non-invasive method called anterior segment optical coherence tomography (AS-OCT), a case study reports. Researchers used AS-OCT to see in greater detail the deformities in the eye of a young woman with Alport…

The eye condition keratoconus — when the cornea thins out and bulges like a cone — can occur in people with Alport syndrome, according to a new case report. Therefore, the condition should be considered when assessing the eye health of these patients, researchers say. Their report, titled “Keratoconus…

Reata Pharmaceuticals has reacquired development, manufacturing, and marketing rights for its proprietary Nrf2 activator products — including bardoxolone methyl (bardoxolone) for the treatment of Alport syndrome and omaveloxolone for Friedreich’s ataxia — the company announced. This follows the termination of a partnership with…

A given mutation in the COL4A5 gene — the gene involved in X-linked Alport syndrome — is likely not a disease-causing (pathogenic) defect although it has been identified as such, a study from China reports. Its researchers suggest that the presence of this mutation, called c.2858G>T and common to people of…

A thorough eye examination can help to diagnose Alport syndrome even in the absence of obvious kidney symptoms, a case report suggests. “Alport syndrome with bilateral simultaneous anterior and posterior lenticonus with severe temporal macular thinning” was published in the journal BMJ Case Reports. Alport syndrome…

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told BioNews Services, publisher…

A patient with Alport syndrome (AS) showed clinical improvement years after receiving a transplant of a kidney from his father, even though subsequent genetic analysis found that the patient has autosomal recessive AS (ARAS) while his father has the autosomal dominant (ADAS) form of the condition. The…

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. Published in the journal Nephron, the case report of a 31-year-old woman diagnosed postpartum with autosomal recessive Alport syndrome (ARAS) highlights the importance…