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Kidney researchers lead $10 million effort to study nephrotic syndrome

10 October 2014 -- Funding totaling $10 million will ensure the University of Michigan Health System’s research of personalized approaches to treat rare kidney diseases.

The National Institutes of Health announced Oct. 8 its renewed commitment to funding the Nephrotic Syndrome Study Network, known as NEPTUNE. The National Institutes of Health Office of Rare Diseases and the National Institutes of Diabetes, Digestive and Kidney Disease renewed a second 5-year funding cycle with a grant of $5.8 million grant to the U-M. The U-M is contributing $4.2 million over a 5-year period.

“With the expanding clinical, pathological and genomic data that has already been collected in NEPTUNE, the network is now starting to use this comprehensive information to initiate molecular, targeted treatments to improve health outcomes for patients with nephrotic syndrome,” says Matthias Kretzler, M.D., a nephrologist and principal investigator of NEPTUNE.

Kretzler is among physician-scientists at 22 consortia to collaborate with representatives of 98 patient advocacy groups to advance clinical research and investigate new treatments for patients with rare diseases.

The collaborations are made possible through awards by the National Institutes of Health to expand the Rare Diseases Clinical Research Network (RDCRN), which is led by NIH’s National Center for Advancing Translational Sciences (NCATS).

Many patients with rare diseases often struggle to obtain an accurate diagnosis and find the right treatments. The consortia have become centers of excellence for diagnosing and monitoring diseases that few clinicians see on a regular basis.
The five-year project supports research of nephrotic syndrome, which describes a group of diseases that affect kidney filter cells and lead to kidney failure in children and adults. The diseases that define nephrotic syndrome are focal and segmental glomerulosclerosis (FSGS), minimal change disease (MCD) and membranous nephropathy.

The Nephrotic Syndrome Study Network is comprised of a network of investigators throughout the United States and Canada and collaborates with sister networks in Europe, India and China. Along with patient advocate groups, NephCure Kidney International and the Halpin Foundation, the network has developed the basis for conducting clinical trials and observational studies by collecting and integrating large-scale data sets from affected patients and training future kidney disease researchers.

Nephcure Kidney International is a patient-community outreach partner in the network and funds ancillary studies that will use the NEPTUNE infrastructure, samples and data. It has committed $13 million to date in supporting research in kidney disease.

Some types of the syndrome are hereditary, but it can also manifest later in life for reasons largely unknown. The network will use molecular medicine tools to unravel the mechanism responsible for the diseases and develop new treatment therapies.

“The concept of precision medicine is applicable and critical to rare diseases,” says Kretzler, the Warner-Lambert/Parke-Davis Professor of Medicine and research professor in the U-M’s Department of Computational Medicine and Informatics. “NEPTUNE is starting to test targeted therapies developed from our comprehensive analysis of these diseases at an unprecedented depth, from gene to environmental exposures.”

While U-M functions as the main operational center of the study, the scientific progress is driven by clinical investigators and scientists from 22 academic medical centers across North-America.

More information may be found at www.NEPTUNE-Study.org.