Author Archives: Alice Melão

Detailed analysis of inner ear structures in a patient diagnosed with X-linked inherited Alport syndrome reveals particular cochlea features that may contribute to hearing loss among these patients, researchers suggest. The findings of the case report were described in a study published in the journal Laryngoscope Investigative Otolaryngology, titled…

Atypical presentation of Alport syndrome is common among mothers of children with the disease, researchers reported in a study published in the journal Nephron. This finding suggests that screening for Alport syndrome in those with persistent renal symptoms, in particular those with a family history of renal diseases, may…

The American Kidney Fund (AKF) has expanded the information available on its website, now covering 17 rare diseases assocated with chronic kidney disease (CKD) and end-stage renal disease (ESRD), including Alport syndrome. This was made possible by the support of several educational grants from Alexion Pharmaceuticals, Mallinckrodt…

Genetic evaluation of direct family members of Alport syndrome patients is an important step to better understanding the underlying features of the disease, as well as to provide proper counseling to the family, a case report shows. The case of a young boy with Alport syndrome, described in the study,…

One year of treatment with Reata Pharmaceuticals’ bardoxolone methyl can reverse the damaging effects of Alport syndrome, promoting the recovery of kidney function, according to data from a Phase 2 trial. Similarly, data from another Phase 2 trial has shown that the investigative treatment can also lead to…

An anonymous donor’s $10,000 gift to Path2Parenthood will help a woman with Alport syndrome as she and her husband expand their family through surrogacy. The donation from a person described as a “celebrity” who wanted to help someone in need of surrogacy, was given to Path2Parenthood through Melissa B. Brisman, an…

Measuring epidermal growth factor (EGF) in the urine, in addition to other standard biomarkers, could help predict a decline in kidney function in children with Alport syndrome, researchers suggested. This finding was highlighted in a study titled, “Urinary epidermal growth factor as a prognostic marker for the…

Regulus Therapeutics has suspended recruitment activities for the RG-012 clinical program in patients with Alport syndrome. This decision was one of the strategic updates and corporate restructuring measures that the company took with the goal of extending its cash availability. The recruitment of participants for RG-012 clinical studies…

Mutations in the COL4A5 gene that lead to the production of shorter versions of the encoded protein are linked to a more severe form of Alport syndrome than other mutations, researchers report in a study. This finding suggests that analysis of the COL4A5-encoded protein can be used to predict renal…

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 woman was reported in the study “Bilateral giant macular holes: A rare manifestation of Alport syndrome,” published in…