Funding from NIH, U-M, and NephCure International to support research of major cause of rare kidney diseases

October 23, 2019  //  FOUND IN: News

The National Center for Advancing Translational Sciences (NCATS) and the National Institute of Diabetes, Digestive and Kidney Diseases (NIDDK) recently awarded a third five-year cycle of funding to support the Nephrotic Syndrome Study Network (NEPTUNE), a member of the Rare Diseases Clinical Research Network (RDCRN).

The RDCRN, an NCATS initiative, includes 20 rare disease consortia, which all strive to identify the causes, risks of progression and potential new therapies for a broad spectrum of diseases.

NEPTUNE strives to meet the urgent need to match patients to therapies that can effectively treat their rare kidney diseases.

The program recruits patients with the rare diseases Focal and Segmental Glomerulosclerosis (FSGS), Minimal Change Disease (MCD), and Membranous Nephropathy (MN), which present as Nephrotic Syndrome (NS).

These diseases often cause serious complications and loss of kidney function, causing immeasurable suffering to patients and their families, not only from the diseases themselves, but also from the side effects of the medications used to treat them.

Because the current way of diagnosing and classifying these diseases does not fully capture the biologic cause of an individual’s unique disease, patients and their physicians are left frustrated by an unpredictable response to therapy and exposure to potentially unnecessary medication side effects.

To change this, NEPTUNE has brought together physician scientists at 38 enrolling centers in the U.S. and Canada, along with patient advocacy groups, NephCure Kidney International and the Halpin Foundation, to bring the latest advances in research to patients. The main coordinating center of the study is housed at U-M.

Over the past 10 years, NEPTUNE has established a rich translational and clinical research infrastructure with more than 750 carefully characterized study participants. The program aims to understand how patients are affected by NS in all its complexity and has captured information derived from medical history information from the patients and their charts, biopsy tissue from patients’ kidneys, as well as blood, urine and live cell samples.

With this rich knowledge base and biological specimens, NEPTUNE now will transition from observing how NS impacts patients to finding new and effective ways to treat the disease.

Most importantly, NEPTUNE will match the disease triggers that are active in an individual patient’s kidney to targeted clinical trials in precompetitive partnerships with leading companies developing novel treatments for NS.

“This is a momentous time for our patients with nephrotic syndrome where we finally have new treatments to test,” said Matthias Kretzler, the Warner-Lambert/Parke-Davis Professor of Medicine and research professor in the U-M Department of Computational Medicine and Informatics. “It will be exciting to see if we can indeed match the right patients to the right drugs. We are so grateful for all the time and commitment from our study participants and their families over the last 10 years and will work hard to establish new treatments for this devastating disease.”

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