Autosomal dominant polycystic kidney disease
Vertex is focused on discovering, developing and producing innovative medicines so people with serious diseases can lead better lives. Our scientists don’t see the impossible as an obstacle; they see it as a good place to start.
Vertex is focused on discovering, developing and producing innovative medicines so people with serious diseases can lead better lives. Our scientists don’t see the impossible as an obstacle; they see it as a good place to start.
About autosomal dominant polycystic kidney disease
What is autosomal dominant polycystic kidney disease (ADPKD)? ADPKD is a life-shortening genetic kidney disease characterized by the growth of numerous kidney-enlarging cysts that impair kidney function and can ultimately lead to kidney failure, requiring dialysis or kidney transplantation, and premature death. Kidney cysts can also lead to severe abdominal pain, cyst infection, blood in the urine and kidney stones, all of which significantly impair quality of life. Around half of patients with ADPKD experience kidney failure by the age of 60.
ADPKD is the most common inherited kidney disease and one of the most common severe Mendelian genetic diseases, affecting an estimated 250,000 diagnosed people in the U.S. and Europe.
How is ADPKD diagnosed? There are two main methods that confirm an ADPKD diagnosis: imaging and genetic testing. The three main imaging tests that are used to diagnose ADPKD are ultrasound, computed tomography (CT) and magnetic resonance imaging (MRI). Genetic testing may be used for people with a family history of ADPKD to determine whether they have inherited a genetic variant known to cause ADPKD or for a definitive diagnosis when a patient’s imaging is equivocal.
The journey to diagnosis varies among people living with ADPKD. Asymptomatic patients with a family history of ADPKD may be diagnosed during a routine evaluation intended to screen for the disease. Others may be diagnosed after experiencing ADPKD-associated symptoms, such as hypertension, blood in the urine, cyst rupture or kidney infection. ADPKD can also be discovered incidentally, such as during an imaging study performed for an unrelated reason (e.g., pregnancy, physical trauma, spinal injury, etc.) or even when people are being screened as potential kidney donors for a family member.
What is the underlying cause of ADPKD? In most cases, ADPKD is caused by variants in the PKD1 or PKD2 genes, which express proteins known as polycystins. The majority of ADPKD patients (~80%) have a variant in the PKD1 gene, resulting in a loss of function of polycystin 1 (PC1). This leads to the proliferation of kidney epithelial cells, increased fluid secretion, and the formation and expansion of numerous fluid-filled cysts. The progressive cyst formation causes an increase in kidney size and decline in kidney function, often leading to kidney failure.
The Vertex approach
We’re focused on researching and discovering potential medicines aimed at treating the underlying cause of ADPKD. We are currently investigating VX-407, a small molecule corrector that aims to treat ADPKD in patients with a subset of PKD1 variants by correcting defective PC1 folding to potentially restore function. In doing so, the aim is to stop growth of kidney cysts and reduce kidney volume. Consistent with our strategy of serial innovation, we continue to research, discover, and develop a portfolio of approaches for the potential treatment of ADPKD.
Pipeline
These programs are investigating treatments or outcomes that have not received approval from a health authority. The information presented is not intended to convey conclusions of safety or efficacy. There is no guarantee that the outcome of these studies will result in approval by a health authority.
