NephCure Supported Studies
Midwest Pediatric Nephrology Consortium (MWPNC)
MWPNC consists of 41 institutions in North America that are committed to developing better treatment protocols for children with Nephrotic Syndrome. NephCure supports MWPNC’s multi-institutional Childhood Nephrotic Syndrome Observational Study (CNOS) that is collecting demographic, treatment and outcome information about children with NS.
The Nephrotic Syndrome Study Network (NEPTUNE)
NephCure joined the National Institutes of Health’s Office of Rare Diseases Research (ORDR) and 19 universities in developing a multi-disciplinary research and education platform aimed at studying the primary causes of Nephrotic Syndrome – FSGS, Minimal Change Disease and Membranous Nephropathy. This $10.25 million, five year project ($6.25 million provided by ORDR, $2 million from NephCure and $2 million in-kind from the University of Michigan) will fund the consortium to:
- Establish an infrastructure to efficiently conduct clinical and translational research in NS
- Identify biomarkers (used for the diagnosis of disease) and potential therapeutic targets for NS
- Conduct clinical studies in NS
- Implement a program to train scientists with M.D./Ph.D. degrees in conducting research in kidney disease
- Develop multimedia educational resources about NS for laypersons and physicians
- Develop a secured repository of clinical data about and biospecimens from NS patients for sharing among researchers that will stimulate research into these diseases internationally
National Renal Disease Registry (RaDaR) – United Kingdom
RaDar is an initiative of the UK Renal Association and the British Association for Paediatric Nephrology. Its purpose is to assemble cohorts of patients with different types of kidney disease to participate in scientific investigations that result in tangible health benefits. NephCure is partnering with investigators studying patients with steroid-resistant FSGS and Nephrotic Syndrome. The program includes a growing data base of 250 pediatric patients. NCF’s award supports ongoing development of the registry and activities to include adult patients in the program. Patients who participate in RaDar for Nephrotic Syndrome will be informed about NCF education and support programs and given an opportunity to share their information with the NephCure Kidney Network patient registry. This partnership enhances greatly NephCure’s outreach and support of patients with Nephrotic Syndrome who live outside of North America. NCF anticipates more global partnerships in the future.
Whole exome sequencing project to identify new FSGS genes
Friedhelm Hildebrandt, M.D., Boston Children’s Hospital, Boston, MA
Martin Pollak, M.D., Beth Israel Deaconess Medical Center, Boston, MA
The first insights into disease mechanisms of FSGS came from the identification of single gene causes of the disease. Examples are the recessive genes nephrin, podocin, CD2AP, LAMB2 and PLCE1 and the dominant genes ACTN4, TRPC6, INF2 and WT1. Discovery of each of these genes contributed immensely to understanding of the pathogenesis of FSGS, but each one (except podocin) is mutated in only a very small fraction of patients with FSGS. From current gene mapping data, it is known that many dozen additional single-gene causes of FSGS may exist, each gene representing an essential piece of the complex puzzle of what causes FSGS. The extreme rarity of these genes has required investigators to look in single families. The investigators are using a combination of more sensitive techniques such as homozygosity mapping (HM) and whole exome resequencing (WER), to study multiple sibling groups who have NS and improving success in finding mutations. Drs. Hildebrandt and Pollak have identified four new genes to date, including ARHGDIA, KANK2 and MPO2.