NephCure Kidney International ®
Saving Kidneys, Saving Lives
July 31, 2018 by Rebecca Cook
December 3, 2017 by Chelsey Fix
We first checked in with the Pollak Lab and Andrea Knob—a genetic counselor and clinical research coordinator—about a year ago. Below is an update of their work, which receives funding from NephCure to study genetic causes of kidney diseases like FSGS and Nephrotic Syndrome. Patients and family members affected by FSGS and Nephrotic Syndrome are invited to participate in the Pollak Lab’s research. Please contact Andrea for more information.
As the holiday season approaches, we want to express our gratitude for the support of all of our patients and families, nephrology providers, and support networks including NephCure in the challenge to fight kidney disease. In the Pollak lab, we are working hard to identify and understand the genetic factors that may be contributing to the cause of kidney diseases such as FSGS (focal segmental glomerulosclerosis), Nephrotic Syndrome, unexplained proteinuria, and unexplained kidney failure in individuals and in families. We hope that by learning more about what causes these conditions, we can eventually help scientists discover better treatments with less side effects in the future.
Researchers in the Pollak Lab
Technology has been significantly improving over the years, and so has access to these technologies. We are able to look at genes and different variations of genes and study them in ways that were unimaginable decades ago. Genes (which we can think of as the “words” within DNA) are the instructions for the body to carry out its functions and give rise to traits. We look at genes related to the kidney in order to see if the instructions are what we expect or if there is variation. From there, we want to know whether a genetic variant is a normal part of the diversity from person to person or whether the genetic variant might be giving incorrect instructions for the kidney to function as it should.
The Pollak Lab is looking for patients and healthy family members to participate in their ongoing study. You can participate from anywhere in the world!
Here at the Pollak lab, we have identified genetic variants (mutations) that we know are associated with kidney diseases such as FSGS, Nephrotic Syndrome, and related conditions. We have done a lot of work with genes such as ACTN4, NPHS2, TRPC6, INF2, and APOL1, for example. We want to know more about these genes and how they work, but we also think that there are other genetic mutations to be discovered.
Current genetic technologies allow us to study the actual genes, but we know that the stories from patients and families experiencing kidney disease is truly at the heart of the answers that we are seeking. If someone has a particular gene variant, what does that mean for that person? What are their exact symptoms? Do other people with the same gene variant have similar symptoms? What treatments have worked or have not worked? What additional factors (genetic, environmental, lifestyle) may be accounting for the differences from person to person and/or family to family?
To answer those questions, we have to rely on the generous contributions of time, information, and personal stories from patients, families, and providers which helps us to understand kidney disease in new ways and helps us to develop new ideas and strategies aimed at prevention, diagnosis, and treatment. We are truly indebted to all who have participated in our research this year and in the past, for without your generosity, we would not be able to do the work we do.
Andrea Knob—Genetic Counselor and Study Coordinator for Dr. Pollak’s study
We also invite anyone to participate in our ongoing research, and we hope to team up with providers who care for individuals and/or families with FSGS, Nephrotic Syndrome, unexplained proteinuria, and/or kidney failure. We hope to continue our collaborative efforts and reach out to communities nationwide.
We invite you to contact us at any time whether you are a patient, family member, or friend looking to learn more about our research, a previous research participant following up with updated medical, family history, and/or contact information, or a nephrology provider interested in referring a patient(s) and/or collaborating. Our study is very simple and can be completed from home. To learn more about us, you can contact us by phone at 617-667-0467, by email at firstname.lastname@example.org, or visit our website by clicking here.
May 12, 2017 by Chelsey Fix
Ask your Senator to to sign on to Senator Stabenow’s letter requesting that FSGS be eligible for research funding under the Department of Defense’s Peer Reviewed Medical Research Program for fiscal year 2018
Each year, the United States Senate crafts an annual Department of Defense (DoD) appropriations bill, which includes a list of conditions that are deemed “eligible for study” through the Peer-Reviewed Medical Research Program (PRMRP). In order for a condition to be included, Senators need to support the condition and officially ask for its inclusion. Senators have many competing appropriations priorities and in order for them to support a condition-specific request, they need to be educated and asked to do so by their constituents. (You)
As a result of grassroots outreach, the Senate has recognized FSGS as a condition eligible for study annually for a number of years. This support allows FSGS researchers to compete for nearly $278 million in federal research funding each year. You can read about FSGS researchers that received funding for projects through this program here.
My name is _________ and I am a constituent from _________. I am also an advocate for the Focal Segmental Glomerulosclerosis (FSGS) community. FSGS is a rare and devastating disease that attacks the kidney’s filtering units (glomeruli), causing serious scarring, which often leads to permanent kidney damage and even failure. FSGS is a leading cause of end-stage renal disease (ESRD), kidney dialysis, and transplantation. FSGS is disabling, potentially fatal, and treatment options remain limited for affected individuals.
Please join Senator Debbie Stabenow in requesting that Focal Segmental Glomerulosclerosis (FSGS) be listed as a condition eligible for study through the Department of Defense’s Peer- Reviewed Medical Research Program, and encouraging continued research at the National Institutes of Health (NIH) during consideration of fiscal year (FY) 2018 appropriations through important report language.
FSGS is also a leading cause of end-stage renal disease (ESRD), which nearly 30,000 veterans suffer from nationwide. An additional 3,000 veterans are expected to reach ESRD each year with significant disparities among African Americans. In addition, researchers suggest that environmental exposures have yielded new opportunities for investigating FSGS in the military population. More needs to be done to improve our understanding of the impact of FSGS among our military personnel and veterans.
Please consider adding your name to the letter by contacting Lorenzo Rubalcava in Senator Debbie Stabenow’s office at Lorenzo_Rubalcava@stabenow.senate.gov or 4-4822. This letter will close on May 18th, 2017.
Thank you for your time and your consideration of this letter.
April 2, 2017 by Chelsey Fix
Early in March, Retrophin, Inc. announced plans to launch a phase 3 clinical trial to evaluate a potential therapy for FSGS patients. The therapy, called Sparsentan, successfully completed a phase 2 clinical trial in 2016 with promising results. The phase 2 clinical trial, known as the DUET Trial, showed a significant decrease in proteinuria for patients that received the therapy, and a greater proportion of patients that received Sparsentan during the trial reached partial remission.
Retrophin plans to launch the phase 3 trial in the second half of 2017. Phase 3 clinical trials are meant to demonstrate the effectiveness of a drug to determine how valuable it may be in clinical practice. It is the last step of research before a drug becomes approved by the FDA for clinical use.
The company is currently working with the FDA to approve the protocol for the clinical trial, which includes using the reduction of proteinuria as an endpoint to demonstrate the therapy’s effectiveness. If approved, Sparsentan would be the first FDA-approved drug for FSGS patients.
NephCure will be working closely with Retrophin to bring awareness to this clinical trial and help bring the patient perspective to their research.
To learn more about Retrophin, Inc. and Sparsentan, click here.
To learn more about ongoing studies, click here.
January 30, 2017 by Chelsey Fix
NephCure is dedicated to supporting research efforts that would result in approved treatment options for FSGS patients, and we are excited about the potential of CCX140 to help the patient community.
Please make sure to “like” us on Facebook and check our website regularly for updates on this development.
May 12, 2016 by Chelsey Fix
Since 2014, NKI and our dedicated community of patient advocates have been encouraging Congress to include FSGS on the Department of Defense’s list of conditions eligible for research funding through the Peer Reviewed Medical Research Program. Learn more about these efforts here.
Directly as a result of our advocacy, FSGS was included on the list in 2015 and 2016. This new stream of grant funding gives FSGS researchers access to up to $278 million in grant awards. Last year was the first year that FSGS researchers were able to submit grant applications for this new funding stream and recently, the DoD announced which of those applications were recommended for funding. We are thrilled that five FSGS projects made the list!
Suzie Pun – University of Washington
Ali Gharavi – Columbia University Medical Center
Simone Sanna-Cherchi – Columbia University Medical Center
Stuart Shankland – University of Washington
We can’t wait to tell you more about the winning projects for 2015 and look forward to even more success in the 2016 cycle.
In order to ensure that FSGS continues to be included as an eligible condition each year, we must continue to advocate. Stay tuned for more information about what you can do to help!
February 29, 2016 by Chelsey Fix
Contact both your Senators and ask that they sign on to Senator Debbie Stabenow’s (D-MI) letter supporting the inclusion of “focal segmental glomerulosclerosis (FSGS)” as condition eligible for study through the Department of Defense Peer-Reviewed Medical Research Program during the Fiscal Year (FY) 2017 appropriations process (Urgent – Deadline for Signatures is March 11)
As a result of grassroots outreach, the Senate has recognized FSGS as a condition eligible for study annually for a number of years. This support allows FSGS researchers to compete for nearly $278 million in federal research funding each year.
Senators are currently working on the FY 2017 DoD appropriations bill and deciding which conditions will be included on the next PRMRP eligible conditions list. Being included on the list one year is no guarantee of being included again in the next year. At this critical time, please reach out to the offices of your Senators and ask that they “sign on to Senator Debbie Stabenow’s letter supporting the inclusion of “focal segmental glomerulosclerosis (FSGS)” in the DOD PRMRP’s eligible conditions list for FY 2017.” Click here to read the letter.
Congressional deadlines are fast approaching, so you must reach out to your Senators this week (the first week of March) or early next week to have an impact.
Dear Senator ____________,
Senator Debbie Stabenow is currently circulating a Senate sign on letter in support continuing to include “Focal Segmental Glomerulosclerosis” (FSGS) in the list of conditions deemed eligible for study through the Department of Defense Peer-Reviewed Medical Research Program (PRMRP) during the FY 2017 appropriations process. On behalf of FSGS impacted families across the state, please contact Sam Schuiteman in Senator Stabenow’s office at Sam_Schuiteman@stabenow.senate.gov or 4-4822 to join this important letter by COB Friday, March 11th.
FSGS is a rare and devastating kidney disease that is a leading cause of end-stage renal disease (ESRD). Nearly 30,000 veterans suffer from ESRD and an additional 3,000 veterans are expected to reach ESRD each year with significant health disparities among African American due to variants of the APOL1 gene. In addition, researchers suggest there are new opportunities for investigating FSGS in the military population with respect to environmental exposures. More needs to be done to improve our understanding of the impact of FSGS among our military personnel and veterans. FSGS has been part of the PRMRP for some time, including FY 2016, and continued participation will lead to further scientific progress.
[OPTIONAL: Briefly tell your FSGS story in 2-4 sentences]
Thank you for your time and your consideration of this request.
July 22, 2015 by Chelsey Fix
Not too long ago, the Liposorber LA-15 System was approved by the FDA for use in pediatric FSGS patients that have tricky cases. This unique device offers a different type of treatment for patients: it cleans the blood of LDL’s, or the “bad cholesterol”.
According to the FDA’s Press Announcement, “The device works by removing certain lipoproteins from the patient’s blood. The patient’s blood is first passed through a plasma filter where the blood cells are separated from plasma (the liquid component of the blood).” The Press Announcement goes on to cite studies that showed positive outcomes of patients that used the Liposorber System, including a study that showed patients excreted less protein after kidney transplant if they had treatment with the Liposorber System (compared to transplant patients that did not receive Liposorber treatment).
Dr. Joshua J. Zaritsky, a pediatric nephrologist at Nemours/ Alfred I. DuPont Hospital in Wilmington, DE, believes in this innovative treatment option, saying, “I am hopeful we may be onto something with the Liposorber. I am beginning to get the feeling that the excess lipids we see in Nephrotic Syndrome are in themselves toxic to the kidney- this may explain why the machine works and provide another yet unexplored mechanism to help treat Nephrotic Syndrome/FSGS”.
The Liposorber LA-15 System (is in) a post-approval study. If you are interested in learning more- be sure to ask your doctor and read more about the device HERE.
June 16, 2015 by Chelsey Fix
Back in January, FSGS was officially added to the list of conditions eligible for research funding through the Department of Defense’s 2015 Peer Reviewed Medical Research Program (PRMRP). This opened up a new $247.5 million funding source for FSGS researchers. When NKI and our patient families visited Washington DC earlier this year, we advocated to keep FSGS on the list and to increase the funding available for research.
More Good News:
Last week, the Senate Appropriations Committee approved the 2016 Defense Appropriations budget including $31.2 million in additional funding for the Peer Reviewed Medical Research Program. FSGS made the list of eligible conditions again, so if the bill passes without changes, our researchers will have access to $278.7 million in 2016!
The bill will have to be passed by the House and Senate and signed by the President before going into effect. We’ll be tracking it and keeping you updated as it moves through the legislative process.
Increased funding for research and including FSGS on the list of eligible DOD conditions were two of our “Asks” when we visited Capitol Hill. Thank you advocating in person, writing letters and emails, and making phone calls to increase government awareness of Nephrotic Syndrome diseases and the vital role that government funding plays in finding better treatments and cures! Keep it up and stay tuned for more opportunities to be an Advocate!
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