Ana Pena, PhD,  —

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 glomerular kidney disease, including patients with Alport syndrome. Chinook, a Canadian biotech focused on medicines for kidney diseases, expects to launch…

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…

Next-generation sequencing (NGS) offers more advantages over conventional Sanger sequencing for the genetic testing of people who might have Alport syndrome (AS), a study has found. Both have a high diagnostic ability, but NGS can identify harmful mutations missed by Sanger sequencing and detect other inherited…

Researchers have found six new mutations underlying Alport syndrome (AS) in seven Chinese families, as well as drawing possible correlations between the type of mutations involved and disease progression, a study reports. They also found differences between males and females in regards to…

Patients with X-linked Alport syndrome who have mutations in their COL4A3 or COL4A4 genes — characteristic of autosomal recessive forms of the disease — are rare but may experience more severe disease,…

Although typically not considered a cause of Alport syndrome, mutations in the LAMA5 gene, in combination with those in collagen IV (COL4) genes, can affect the clinical presentation and aggravate the severity of kidney problems linked to this disease, a study…

A new variant (mutation) of the COL4A4 gene was identified as the cause of autosomal recessive Alport syndrome (ARAS) in a young Chinese woman, according to a case report. The women also inherited a mutation in…

Hearing loss in male patients with X-linked Alport syndrome (XLAS) is caused by sensorineural deafness that becomes worse with age. Also, the more serious the mutations carried by patients, the higher the degree of their…

Genetic testing, not hematuria (blood in urine), is the more accurate method to diagnose Alport syndrome and determine its mode of inheritance within a family, a review of eight related cases reports. The review study, titled “…