Advocacy Day 2017 February 1, 2017 by Kylie Karley Advocacy Day 2017 NephCure invites all patient families, doctors, researchers, nurses, and everyone else impacted by Nephrotic Syndrome to join us on June 8th and 9th for a day on Capitol Hill. We will be meeting with Representatives, Senators, or Congressional staff to share our stories about Nephrotic Syndrome and kidney disease and to ask for research funding that can help us find better treatment options and cures. This is your chance to make sure your voice is heard by legislators. Your story matters, and can help shape policies that impact millions of Americans. NephCure only hosts this event every 2 years, so don’t miss your chance to share your story with your elected representatives. If you are interested in attending Advocacy Day with us, please email Chelsey at cfix@nephcure.org or call 610-540-0186 ext 19 for registration and hotel information. Date: June 8th & 9th Location: Capitol Hill, Washington D.C. Who: Everyone impacted by Nephrotic Syndrome How to attend: Email cfix@nephcure.org for registration and travel information Can’t make June 8th-9th? There are opportunities to advocate on Capitol Hill with other organizations! The dates and organizations are listed below, and feel free to email us if you would like more information on these events: National Kidney Foundation: March 6- 7
NephCure Funded Research: Dr. Martin Pollak’s Lab January 30, 2017 by Kylie Karley NephCure Funded Research: Dr. Martin Pollak’s Lab Through generous donations from the NephCure Kidney International community, NephCure has been able to support Dr. Martin Pollak’s kidney disease research at Beth Israel Deaconess Medical Center (a Harvard Medical School teaching hospital) since 2007. Dr. Pollak’s lab works on identifying genetic causes of kidney diseases, like FSGS. They have made some very exciting progress over the past few years, leading to Dr. Pollak’s election into the prestigious National Academy of Sciences in 2014. Dr. Pollak’s research has identified that two common variations in the apolipoprotein L1 (APOL1) gene impart up to a ten-fold increased susceptibility to FSGS among African Americans. African Americans and others of recent African ancestry suffer disproportionately from chronic kidney disease: although they make up 13% of the U.S. population, they represent 35% of all individuals on dialysis. Other researchers have calculated that 1 in 8 African Americans are at risk for developing kidney disease due to APOL1—stark numbers that may indicate that some forms are FSGS would not be classified as a “rare disease.” But the research being done at Dr. Pollak’s lab may one day help prevent treat—and prevent—this disease from occurring. Dr. Pollak was recently featured in an article on SFGate.com as saying that “We want to put our own [kidney disease research] division out of business by preventing this disease to begin with.” We are thrilled to offer a “progress report” on this work directly from Dr. Pollak’s lab. We spoke recently with Andrea Knob, a genetic counselor, clinical research coordinator, and key player in Dr. Pollak’s study, who gave us some background on the work the study is doing, what we can expect from this lab in the future, and how you can get involved in this research yourself. Q: What is the goal of the research being done in Dr. Pollak’s lab? Andrea: The purpose of our study is to learn more about the causes of kidney conditions including FSGS, Nephrotic syndrome, unexplained proteinuria, and renal failure by studying genetics. We identify and study genetic factors that may contribute to the development of these conditions. We hope that this will further the knowledge required for scientists to develop better treatments in the future. Q: What is your role at Dr. Pollak’s lab? Andrea: I am the clinical research coordinator for Dr. Pollak’s lab. With my background in genetic counseling, I help patients and families navigate the research process, assist them in documenting their personal and family health histories, and serve as a resource for any questions surrounding genetics and research. I am the liaison between our patients/families and our physicians/scientists. Q: What do you enjoy about CKD research? Andrea: Every person and family has a story to share, and this information is so valuable and so important. It is amazing to witness this generosity, and to be a part of a team that is so dedicated to making progress in this field. Research answers the questions that otherwise would be left unknown, and that in turn provides hope. Q: What is APOL1? Andrea: APOL1 is one of several genes that we study in the Pollak lab. Variations in this gene have been found to confer resistance to trypanosomiasis, a serious disease in some African regions, and as such these variations have risen in frequency in parts of Africa. We are investigating how these gene variants contribute to kidney disease in persons of African ancestry. Q: Why did the lab decide to focus on APOL1? Andrea: APOL1 is one of several genes that we study as we try to learn more about the causes of FSGS, Nephrotic syndrome, and related conditions in patients and families. Our lab’s interest in the genetics of FSGS led us to explore the basis of the high rate of FSGS in persons of African ancestry. Certain specific variations in the APOL1 gene contribute to this disparity. Q: What impact can diagnosing an APOL1 mutation have on treatments for patients? Andrea: We need to learn more about genes, including APOL1, that may contribute to the development of kidney disease. (We also think there are more to be discovered!) Diagnosing a gene mutation helps doctors determine who might be at increased risk of developing kidney disease. While it may not affect the treatment for patients at this time, the goal is to acquire the information we need about these gene variations in order to develop better treatments in the future. Q: What is involved for patients in this study? Andrea: Participation involves a questionnaire, a saliva sample, and a urine sample (if possible) that can be given from home. (If participants prefer to give a blood sample instead of a saliva sample we can help arrange this.) Q: Who can participate in this study? Andrea: • Anyone with FSGS, Nephrotic syndrome, or unexplained proteinuria • Anyone with a family member who has FSGS, Nephrotic syndrome, or unexplained proteinuria • Anyone with African ethnicity with non diabetic kidney failure • Any healthy individual without kidney disease Andrea Knob – Genetic Counselor and Study Coordinator for Dr. Pollak’s study Q: How do I get more information about the study? Contact Andrea Knob with any study related questions by phone at 617-667-0467 or by email at aknob@bidmc.harvard.edu. You can also read more about the research study by clicking here.
Dr. Anna Greka, Kidney Researcher at Harvard, Receives PECASE from President January 30, 2017 by Kylie Karley Dr. Anna Greka, Kidney Researcher at Harvard, Receives PECASE from President In early January, President Obama honored 102 early career scientists with a Presidential Early Career Award for Science and Engineering. It is considered the highest honor for scientists that are in the dawn of their career—the award is given to federally funded researchers that have done exceptional work in advancing their field. Dr. Anna Greka, long-time friend of NephCure and kidney disease researcher at Harvard University, was a recipient of this award. Pres. Obama praised Greka and the other recipients, saying, “These innovators are working to help keep the United States on the cutting edge, showing that Federal investments in science lead to advancements that expand our knowledge of the world around us and contribute to our economy.” Dr. Greka received a Young Investigator Grant from NephCure in 2008, and has continued to support NS patients and families with her hard work and dedication to research. Her research lab focuses on the development of targeted therapies to treat kidney diseases like FSGS and MCD. Dr. Greka also founded the Glom-NExT conference to bring brilliant minds together and focus exclusively on finding therapies for these kidney diseases. She will also be collaborating with NephCure to host a Regional Symposium in the spring. You can read more about Dr. Greka’s lab and her work here – http://grekalab.bwh.harvard.edu You can read the full statement from the White House about the PECASE awards here.
Pharmaceutical Company ChemoCentryx Announces Plans for Potential New FSGS Therapy January 30, 2017 by Kylie Karley Pharmaceutical Company ChemoCentryx Announces Plans for Potential New FSGS Therapy Late last year, ChemoCentryx announced plans to launch a clinical trial in 2017 to evaluate a potential treatment option for FSGS patients. The treatment option, known as CCX140, successfully completed a Phase 2 trial (testing for safety and effectiveness) that included patients with diabetic nephropathy. ChemoCentryx is hoping that success indicates that CCX140 will be beneficial to FSGS patients. Currently, there are no FDA approved treatments for FSGS. 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.
Why I Do What I Do: Spotlight On Matthew Singer, Nephlete January 17, 2017 by Lauren Eva Matthew Singer recently took on the Chicago Rock ‘n’ Roll Half Marathon as a Nephlete to raise funds for NephCure and help support his brother, Eric, in his kidney journey. We spent some time with him to learn more about his story and how he was able to raise the most of any individual fundraiser in 2016! NKI: Tell us how you’re involved with NephCure. Matthew: In past years, I’ve donated to NephCure on several occasions. However, in 2016, I decided to make a more substantial commitment by running the Chicago Rock ‘n’ Roll Half Marathon and raising money for kidney research. NKI: Why do you do what you do? What’s your personal connection to kidney disease? Matthew: My brother has been living with FSGS for several years, so kidney disease research is obviously a cause I care a great deal about. I had been thinking of running a race, so it was serendipity when I learned that NephCure was raising funds through a [local] Chicago race. After I brainstormed the #SaveOurKidneys fundraising pitch, I had a conversation with my brother, and we were both excited about the idea. We realized that we might be able to raise a pretty significant amount of money for a cause near and dear to both of our hearts! NKI: What was the hardest part about doing the run and/or fundraiser? Matthew: The weekly long runs to prepare for the race were definitely the hardest. It is one thing to run 13+ miles when you’ve got the adrenaline of race day, but quite another to run 10 miles on a training run. Matthew’s hilarious (and very successful!) fundraising page. NKI: What was the best part? Matthew: I was absolutely blown away by the the overwhelming response — not only close friends and family, but distant acquaintances were really generous. It is one thing to “like” our posts on social media, but another to actually reach into your wallet to donate. I was awed by how many people supported us, and how generously. Frankly, it wasn’t all that much work to raise the money: a few e-mails and social media posts accounted for most of our donations. The race day was great as well. The weather was surprisingly cool for July in Chicago — which helped me finish the race with a personal best time. Congratulations to Matthew and his brother Eric for their hard work to #SaveOurKidneys and fund research to find a cure for FSGS and Nephrotic Syndrome! Learn more about how you can get involved as a Nephlete and raise funds for research while participating in your local races! Send us an email at events@nephcure.org to get started.
DUET Study Releases Preliminary Results (SPOILER it looks promising!) September 7, 2016 by Kylie Karley On September 7, 2016, Retrophin Inc. released the “Top Line” results from their recently completed DUET study, a Phase 2 clinical trial testing safety and efficacy of Sparsentan for FSGS patients. Results showed promise for Sparsentan’s effectiveness at reducing proteinuria in patients with FSGS, with one group of patients seeing an average reduction of 44.8%. The DUET study included 96 patients, and only one serious adverse side effect (anemia) was reported. All patients chose to extend their treatment with Sparsentan during the trial’s open label extension period. Alvin Shih MD, the executive vice-president for Retrophin Inc., said “significant reductions in proteinuria, along with a well-tolerated preliminary safety profile have us excited about being one step closer to providing a new treatment option for patients with FSGS.” NephCure Kidney International is excited about these results and support Dr. Shih’s hope that we are moving closer to providing a new, effective, and safe treatment option for FSGS patients. Mark Stone, Chief Executive Officer of NephCure Kidney International, remarked “These preliminary results are very exciting for our community. This gives us hope that better treatment options will be available for our families in the near future.” NephCure Kidney International would like to thank everyone who contributed time, talent, and resources to this study. Thank you, especially, to the patients and families who participated and helped bring effective treatments within reach. Read the official press release here
White House Organ Summit 2016 June 20, 2016 by Kylie Karley The Obama Administration met with numerous companies, foundations, hospitals, universities, and patient advocacy groups at the White House’s Organ Summit on Monday, June 13. The goals of the summit include increasing the number of organ transplants by 2,000 each year, improving patient outcomes, facilitating research and developments around organ donation, and closing the gap between Americans who support organ donation and those who are actually registered organ donors. Last year, the United States exceeded 30,000 annual organ transplants for the first time, yet 120,000 Americans are still waiting for an organ donation. Today, twenty-two people will die waiting for a life-saving transplant. President Obama, and several government and non-governmental organizations have made many efforts to reduce the organ donation waitlist, support patients, and increase access to organ transplantation. Announced on Monday, almost $200 million in investments will be made to facilitate research and development related to organ donation. Specifically the Department of Defense (DOD) in a $160 million public-private investment will create an Advanced Tissue Biofabrication Manufacturing Innovation Institute to develop new manufacturing techniques to repair organ damage by replacing cells and tissues and that can hopefully be used one day to replace entire organs. In similar efforts, the DOD will award small businesses working to advance the science behind preserving organs and tissues. The donor registration system is being re-imagined to seamlessly and effectively increase registrations and transplants. More than a dozen organizations including Facebook and Twitter are finding new tools and developing campaigns to make registering to be an organ donor easier with the intention of signing up 1 million new donors by fall of 2016. More than 100,000 people on the organ waiting list are awaiting a kidney transplant so kidney-specific projects were a highlight of Monday’s Summit. The American Society of Nephrology will partner with the XPRIZE Foundation to encourage the development of a new device solution for patients experiencing end-stage renal disease – an improvement on current dialysis methods. This project aims to overcome the decades of stagnation in kidney disease treatment. In addition, dozens of transplant centers announced a collaboration to share data and best practices for hard-to-match patients, which could help more than 1,000 people gain access to transplants. Johns Hopkins University is currently working with the National Institute of Allergy and Infectious Disease to create HIV-positive donor pools, which could also lead to as many as 1,000 more transplants per year. Part of the Organ Summit included the publication of letters written by organ donation recipients. One of which was from NBA player Alonzo Mourning, a kidney transplant patient. Mourning, who lost his kidney due to FSGS, went on to win a championship following his transplantation, and today brings awareness to the efforts of the White House and the importance of organ donation registration.
Ask the expert webinar – Navigating Common Insurance Headaches June 3, 2016 by Kylie Karley Join us June 9 from 8:00-9:00 pm EST for our Ask the Expert Webinar “Navigating Common Insurance Headaches.”
Ask the Expert Webinar – Transitioning from a Pediatric to an Adult Nephrologist May 16, 2016 by Kelly Helm Changing doctors and medical teams even under the best of conditions can be stressful. After spending much time and going through many struggles with a Pediatric Nephrologist can make it that much more difficult to even think about finding and switching to an Adult Nephrologist where no doubt things will be different! Join us on Tuesday, May 24 from 8-9 PM EST for the next Ask the Expert Webinar: Transitioning from a Pediatric Nephrologist to an Adult Nephrologist. Special Guest: Dr. Elaine Ku Pediatric and Adult Nephrologist University of California San Francisco Register Here: https://attendee.gotowebinar.com/register/6103535652235433985