About Alport Syndrome

Alport syndrome (AS) is a progressive, inherited form of kidney disease that is often associated with hearing loss and abnormalities of the eye. It is caused by genetic mutations that ultimately cause lipid accumulation and scarring of the basement membranes of the kidney (glomerulus), the inner ear (cochlea), and the eye. A key, early feature of AS is blood in the urine (hematuria), with a progressive decline in kidney function ultimately resulting in kidney failure. Hearing loss affecting both ears occurs in late childhood or early adolescence, generally before the onset of kidney failure. Patients may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal retina coloration, but these abnormalities seldom lead to vision loss. Prognosis for patients with AS is poor^1,2.

AS Prognosis Is Poor

Alport syndrome (AS) represents all geographic and ethnic groups. Although the overall incidence in the general population is unknown, U.S. data demonstrates AS accounts for 3 percent of children and 0.2 percent of adults with end-stage kidney disease ¹. The gene frequency of Alport syndrome in the United States has been estimated at 1:5,000 to 1:10,000 people, suggesting there are approximately 30,000 to 60,000 affected individuals¹. 

There are no disease-specific treatments for AS. Current therapy focuses on minimizing loss of protein in the urine, and preventing complications from edema to help stabilize kidney function.

There is a significant unmet need for effective AS-specific treatments that can delay disease progression, prevent end-stage renal disease and hearing loss, and improve patients’ quality of life.