Unknown Causes of Kidney Disease Project

The Unknown Causes of Kidney Disease Roadmap

View the slides from the panel discussion

A variety of health and environmental conditions can lead to kidney disease and, in some cases, kidney failure. Identifying the root cause of patients' kidney disease, both early in the disease and as a life-preserving necessity, is important for making crucial treatment decisions. 

As a champion of people living with kidney disease, the American Kidney Fund (AKF) has long been engaged with stakeholders across the healthcare sector and utilizing these relationships to identify both the barriers that this patient population faces in seeking a diagnosis and the challenges that not having a clear diagnosis cause in patients' lives. AKF's Unknown Causes of Kidney Disease Project seeks to improve understanding of how undiagnosed or misdiagnosed causes of kidney disease directly impact patient care and outcomes.

AKF held the Unknown Causes of Kidney Disease Summit in December 2020, bringing together medical leaders, patient advocates, and academic and industry researchers, to identify how the kidney community can drive innovation in research, diagnosis and treatment of the underlying causes of kidney disease. Leading experts reviewed the research on the subject, heard directly from affected patients, identified barriers to progress, and developed a plan for a path forward to address this serious issue in nephrology.

After refining the key takeaways from the Summit, AKF developed a roadmap to present a path forward for improving the diagnosis of the causes of kidney disease and kidney failure. Overcoming barriers to identifying the root cause of kidney disease for currently unknown reasons, will not be accomplished quickly. However, thoughtful, dedicated collaboration among the kidney care community can result in steady progress toward expanding access to genetic testing, reducing systemic inequalities, engaging providers, and empowering patients. The solutions that AKF outlines in this roadmap, based on expert input from the Summit, and supported by educational resources and best practices for patient-provider communication, can help reduce the number of patients unaware of the origins of their kidney disease.

Latest updates on the Unknown Causes of Kidney Disease Project

To date, AKF has hosted five summits of the UCKD Project, the latest of which brought together medical and industry leaders together with patient advocates and was held in September 2024 in Washington, D.C.

With guidance from these workgroups, AKF's UCKD Project has:

• Surveyed people living with kidney disease about the cause of their kidney disease and their diagnostic journey
• Created videos that tell the stories of people living with rare kidney diseases
• Developed and launched a community resource finder
• Launched "Know Your Cause" resources, part of the Know Your Kidneys program
• Partnered with gymnastics champion Suni Lee to raise awareness about the importance of getting an accurate diagnosis
• Formed the UCKD Coalition and held two rare kidney disease fly-ins
• Published a study of health care providers that provided insights into opportunities and barriers in diagnosing kidney disease
• Launched continuing medical education courses

The work of the UCKD Project continues, focusing on reaching into communities of color, empowering caregivers with new resources, reaching community physicians and more.

If you or your organization is interested in partnering with AKF to accomplish these goals, please email Jemetra Collins, Director of Professional Education at jcollins@kidneyfund.org.

Summit Steering Committee:

Anna White, MD, MBA
US Medical Affairs, Medical Director — Nephrology
IM US Medical Affairs

Dominika Murphy
Patient Engagement
Novartis

David Baron, Ph.D.
PKD Science Consultant
Former Chief Scientific Officer, PKD Foundation

Ali Gharavi, M.D.
Chief, Division of Nephrology
Member, Institute for Genomic Medicine
New York-Presbyterian/ Columbia University Medical Center

Kevin Ho, M.D.
Medical Director, US Medical Affairs- Rare Diseases
Sanofi Genzyme

Jack Johnson
Executive Director and Co-Founder
Fabry Support and Information Group

Anna Köttgen, M.D., MPH
Director, Institute of Genetic Epidemiology
University of Freiburg, Germany

Trudy McKanna, M.S.
Director, Medical Education- Transplant and Renal Genetics
Natera

Silas Norman, M.D., MPH
Associate Professor, University of Michigan Division of Nephrology
Vice Chair of Medical Affairs Committee, American Kidney Fund

Julie Wright Nunes, M.D., MPH
Associate Professor, University of Michigan Department of Internal Medicine
Chair of Medical Affairs Committee, American Kidney Fund

Summit Presenters:

Dr. Ali Gharavi
Chief, Division of Nephrology
Member, Institute for Genomic Medicine
New York-Presbyterian/ Columbia University Medical Center

Dr. Martin Pollak
Chief, Division of Nephrology and Director, Pollak Lab
Beth Israel Deaconess Medical Center

Patient/Caregiver Advocates:

Theresa Caldron

Amanda Goldstein

Shayla Harris

Deanna Nicole Hunt

Paul Rakoski

Summit Participants:

Alexion Pharmaceuticals, Inc.
John Viel, PhD- Senior Medical Director, Nephrology

Alport Syndrome Foundation
Kevin Schnurr- Dir. of Communications and Patient Engagement

American Association of Kidney Patients
Richard Knight- President

American Nephrology Nurses Association
Debra Hain, PhD APRN AGPCNP-BC FAAN FAANP FNKF- Fellow

American Society of Nephrology
Susan Stark- Acting VP, Excellence in Patient Care
Ronald Falk, MD, FASN- Past President

Atypical HUS Foundation
David Deffenbaugh- Executive Director

Centers for Medicare & Medicaid Services
Jesse Roach, MD- Nephrologist, Medical Officer, Center for Clinical Standards and Quality

Chi Eta Phi Sorority, Inc.
Angela Jourdain, Dr. PH., MSN, RN, CCRN, NEA-BC - Past President
Stacey Johnson, DNP, MSN, BSN, RN, CCM- Assistant Regional Director

Dialysis Patient Citizens
Kathi Niccum, EdD- Education Director

IgA Nephropathy Foundation of America, Inc.
Bonnie Schneider- Founder and Director

ICAHN School of Medicine at Mount Sinai
Paolo Cravedi, MD, PhD- Principal Investigator, the TANGO Study, Cravedi Laboratory

International Society of Nephrology
Shuchi Anand, MD, MS- Board Member, Director of the Center for Tubulointerstitial Kidney Disease at Stanford University

Kidney Disease: Improving Global Outcomes (KDIGO)
John Davis- CEO

National Institute of Diabetes, Digestive and Kidney Diseases
Ivonne Schulman, MD- Program Director, Division of Kidney, Urologic and Hematologic Diseases

National Kidney Foundation
Jennifer St. Clair Russell, PhD, MSEd, MCHES- Sr. VP Education and Programs

National Medical Association
Oliver Brooks, MD- Immediate Past President

National Minority Organ Transplant Education Program (MOTTEP)
Clive Callender, MD- President and Founder

National Organization for Rare Disorders (NORD)
Alicia Lawrence, LMSW- Patient Services Case Manager

National Society of Genetic Counselors
Gillian Hooker, PhD, ScM- President

NephCure Kidney International
Kristen Hood, MSN, RN- Director Clinical Outreach

Otsuka America Pharmaceutical, Inc.
Charlotte Jones-Burton, MD, MS- VP, Global Clinical Development, Nephrology

Oxalosis & Hyperoxaluria Foundation
Kim Hollander- Executive Director

Polycystic Kidney Disease Foundation
Chris Rusconi, PhD- Chief Research Officer

Renal Pathology Society
Jeffrey Hodgin, MD, PhD- Board of Advisors

Renal Physicians Association
Amy Beckrich, CAE- Project Director

U.S. Veterans Affairs
Susan Crowley, MD, MBA, FASN- National Program Director for Kidney Disease and Dialysis
Deborah Hartzfeld- Lead Genetic Counselor, Genomic Medicine Service

University of Michigan
Alan Leichtman, MD- Professor Emeritus, Department of Medicine, Division of Nephrology

University of Michigan Medical School
Laura Heyns Mariani, MD- NEPTUNE Nephrotic Syndrome Study Network
Assistant Professor, Internal Medicine/Nephrology

Vertex Pharmaceuticals, Inc.
Ogo Egbuna, MD- Sr. Medical Director