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Raising awareness about kidney disease is near and dear to me as a nephrologist and as the clinical development lead for our APOL1-mediated kidney disease (AMKD) program at Vertex Pharmaceuticals. Throughout the year, organizations like the American Kidney Fund and the International Society of Nephrology work to increase awareness and advance kidney health.

Chronic kidney disease (CKD) affects more than 10% of people worldwide. But the underlying cause of kidney disease is not known for up to 20% of people with CKD. For other patients, physicians may misdiagnose the cause of their CKD.

Our understanding of the role of genes in kidney disease is growing. Some kidney diseases can be caused by a variation in a single gene, also known as a monogenic disorder. This type of kidney disease is estimated to account for 70% of children and 10-15% of adults with end-stage kidney disease. Of the single genetic disorders, kidney disease caused by variations in the APOL1 gene disproportionately impact people of African ancestry. In the U.S., this may include (but is not necessarily limited to) people who identify as Black, African American, Afro-Caribbean and Latino or Latina.

What is APOL1-mediated kidney disease? 

APOL1-mediated kidney disease is a genetic form of kidney disease caused by variants in the APOL1 gene. This gene plays a role in innate immunity and is present in many tissues, including the kidneys. APOL1 variants provide protection against certain parasites that cause African sleeping sickness, but they’re also the underlying cause of rapidly progressive kidney disease. AMKD is estimated to be a substantial driver of the disparate burden of kidney disease in people of African ancestry in the U.S. and many other geographies where people of sub-Saharan ancestry live.

One of the challenges with AMKD is that, like other chronic kidney diseases, it can progress without obvious symptoms at first. A timely diagnosis and a clear understanding of the cause can impact how the disease is managed; early interventions may help slow the progression of the disease.  

That’s why Vertex is a Leadership Sponsor of the Unknown Causes of Kidney Disease Project. This project kicked off in December 2020 with The Unknown Causes of Kidney Disease (UCKD) Summit, which brought together medical leaders, patient advocates and researchers to identify how the kidney community can drive innovation in research, diagnosis and treatment of the underlying causes of kidney disease in the U.S.  

The UCKD Roadmap provides a consensus document for addressing unknown causes of kidney disease in the U.S. It identified four focus areas and outlined both challenges and strategies for addressing those challenges: 

  1. Improving access to genetic testing for people with kidney disease to increase the number of clear diagnoses 

  2. Developing national standards related to genetic testing through a consensus-driven process leveraging best practices 

  3. Expanding provider education and realigning financial incentives to prioritize definitive diagnosis of the cause of kidney disease 

  4. Educating patients about kidney disease and testing in an effective, culturally competent manner 

To accomplish this, the American Kidney Fund (AKF) assembled three groups to begin implementing the UCKD Roadmap, each of which focuses on a particular area: 1) public policy, 2) patient and caregiver empowerment and 3) health care professional awareness and education. In December 2021, all three working groups (comprising patient advocates, rare disease organizations, kidney advocacy organizations and leading medical professionals) came together for a working summit to discuss key goals, current progress, anticipated barriers and next steps to forge ahead.

I'm personally excited to be part of the health care professional awareness and education workgroup.  The workgroup recently fielded a survey in the U.S. of physicians, which will help the AKF design tools to enable providers to better identify the root cause of a patient’s chronic kidney disease. As a physician who has dedicated my career to pursuing paths to better kidney care, it is gratifying to be part of this project. I am energized by the collaboration and dedication to address these challenges.  If you have kidney disease and don’t know the underlying cause, I strongly encourage you to learn more about the genetic causes of kidney disease and reach out to your health care provider. For additional AMKD resources, check out www.KidneyFund.org