New Study Shows Promising Results for Patients with Inherited Kidney Disease

March 31, 2022, New York, NY — Researchers will present at the National Kidney Foundation’s Spring Clinical Meetings the results of a clinical trial of a new therapy that gives hope to people with a specific genetic mutation that can cause kidney damage. 

APOL1-mediated kidney disease (AMKD) is a serious disease caused by mutations in the APOL1 gene that lead to damage in certain kidney cells. When these kidney cells are damaged, a large amount of protein is lost from the blood and leaks into the urine, which affects the kidneys’ ability to work properly. Current therapies for AMKD do not treat the genetic cause of this disease and often don’t stop progression to kidney failure. 

“Vertex is developing a new therapy for AMKD, called VX-147, that treats the genetic cause of the disease by blocking APOL1 function, which allows for the kidney to function properly,” said lead author Glenn Chertow, MD, Stanford University School of Medicine. “The current standard-of-care for patients with AMKD primarily includes treatments that provide symptomatic management of disease manifestations (e.g., hypertension, edema), but fail to address the genetic underpinning; thus, there remains a significant unmet need for efficacious and safe treatments for these patients.” 

The results of the research will be presented in a late-breaking session to the thousands of nephrologists and kidney health professionals attending the conference, to be held virtually and in-person in Boston, April 6-10. The underlying genetic cause of AMKD is toxic gain-of-function mutations in the APOL1 gene that enhance APOL1 pore function and damage glomerular cells, ultimately leading to proteinuria and kidney failure. 

“In this trial, we measured the amount of protein in the urine to understand how well treatment with VX147 was working. If the amount of protein in the urine is lower after treatment with VX147, then it suggests that treatment is working because the amount of protein in the urine is widely recognized as a sign of the extent of kidney damage,” Dr. Chertow said. “We show that VX-147 significantly reduced the amount of protein in the urine. We also show that VX-147 was safe and tolerable without any serious side effects. Together, these results support APOL1 inhibitors like VX-147 as a potential treatment for people with AMKD.” 

In 2010, scientists discovered that specific changes (i.e., mutations) in a gene called APOL1 cause a serious kidney disease called APOL1-mediated kidney disease (AMKD). People that inherit two APOL1 mutations are at a much higher risk of developing kidney disease compared to people without APOL1 mutations; individuals that develop AMKD progress quickly to end-stage kidney disease. 

“We are currently planning a clinical trial to evaluate the efficacy and safety of VX-147 in a broader population of individuals with proteinuric kidney disease and two APOL1 mutations,” Dr. Chertow said. 

The authors of the study also include: Martin Pollak, and David Friedman, Beth Israel Deaconess Medical Center, Harvard Medical School; Laura Barisoni Duke University; Ronald Falk, University of North Carolina at Chapel Hill; Debbie Gipson, University of Michigan; Michael Lipkowitz, Georgetown University Hospital; Akinlolu Ojo, University of Kansas School of Medicine; Madalina Chirieac, Cong Xu, Anne Fortier, Ogo Egbuna, and Mark Bunnage, Vertex Pharmaceuticals. 

NKF Spring Clinical Meetings 

For more than 30 years, nephrology healthcare professionals from across the country have come to NKF’s Spring Clinical Meetings to learn about the newest developments related to all aspects of nephrology practice; network with colleagues; and present their research findings. The NKF Spring Clinical Meetings are designed for meaningful change in the multidisciplinary healthcare teams’ skills, performance, and patient health outcomes. It is the only conference of its kind that focuses on translating science into practice for the entire healthcare team. This year’s event will be held in Boston, April 6-10. 

About Kidney Disease 

In the United States, 37 million adults are estimated to have kidney disease, also known as chronic kidney disease (CKD)—and approximately 90 percent don’t know they have it.  1 in 3 adults in the U.S. are at risk for kidney disease.  Risk factors for kidney disease include: diabeteshigh blood pressureheart diseaseobesity, and family history. People of Black/African American, Hispanic/Latino, American Indian/Alaska Native, Asian American, or Native Hawaiian/Other Pacific Islander descent are at increased risk for developing the disease. Black/African American people are more than 3 times as likely as White people to have kidney failure.  Hispanics/Latinos are 1.3 times more likely than non-Hispanics to have kidney failure. 

NKF Professional Membership 

Healthcare professionals can join NKF to receive access to tools and resources for both patients and professionals, discounts on professional education, and access to a network of thousands of individuals who treat patients with kidney disease.   

About the National Kidney Foundation 

The National Kidney Foundation (NKF) is the largest, most comprehensive, and longstanding patient-centric organization dedicated to the awareness, prevention, and treatment of kidney disease in the U.S. For more information about NKF, visit