NephCure Accelerating Cures Institute: Worldwide Launch and US Expansion March 23, 2017 by Lauren Eva The NACI Network is expanding worldwide to speed more effective treatments to individuals with Nephrotic Syndrome Thanks to a significant funding contribution, we’re proud to announce that the NephCure Accelerating Cures Institute (NACI) Care Network is expanding. An investment from Pfizer’s Centers for Therapeutic Innovation (PFE) and Retrophin (RTRX) will help grow the network from 8 sites to 30 sites worldwide. For patients living with Nephrotic Syndrome, more NACI sites means greater access to specialized care and trial opportunities specific to their unique kidney condition. Equally important, a more robust Network gives families across the globe a hub for community building and support at their individual care sites. NephCure Accelerating Cures Institute Global Trials Network The NACI story began in 2014, when leaders from NephCure Kidney International sought advice from leading medical professionals about ways to get better treatment options to patients faster. That following year, NKI launched NACI in partnership with the University of Michigan. Today, NACI is co-led by veteran representatives from NKI in suburban Philadelphia and an expert team from the University of Michigan, Ann Arbor. NephCure Accelerating Cures Institute United States Trials Network To read more about NACI, you can view the full press release here, or visit the NACI website at www.nephcureaci.org. If you have any questions or want to learn more, please send us an email at info@nephcure.org, and we will direct your message to the appropriate party.
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.
Q&A with Dr. Kopp of the NIH December 1, 2016 by Kylie Karley Dr. Jeffrey Kopp is a physician and researcher who focuses on FSGS and related diseases. He currently leads a group in the kidney disease section (officially called the National Institute of Diabetes and Digestive and Kidney Diseases, or NIDDK) of the National Institutes of Health (NIH). Dr. Kopp is also working on a new clinical trial for FSGS, MCD, and MN patients at the NIH headquarters near Washington D.C. We had the awesome pleasure of sitting down and catching up with Dr. Kopp about his fascinating job and new clinical trial. Keep reading to learn more, and read about some of his other research projects here. Interview highlights: Dr. Kopp works at the National Institute of Health’s kidney branch, where he studies glomerular diseases such as FSGS and MCD. He also serves as Captain for the United States Public Health Service, and has been deployed to help with medical care during natural disasters. Dr. Kopp is leading a new clinical trial for FSGS, MCD, and MN patients at the NIH studying a compound called ManNAc as a treatment option. ManNAc is a sugar that occurs naturally in your body. Another researcher at the NIH found that mice without ManNAc developed MCD, and adding ManNAc to their diet was helpful in treating it. Therefore, it may be effective at treating MCD, FSGS, and MN in humans (Dr. Kopp describes the full mechanism below—make sure you read the article!) This study requires people to stay at the NIH for 11 days total, but it can be split up into 2 trips. Luckily, there is a lot to do to pass free time you may have at the NIH, including movie marathons, exercise programs, an art gallery, and an in-house business center. Learn more about taking part in the study by clicking here or contacting Emily Brede, RN at emily.brede@nih.gov Full interview: NKI: What is your job at the NIDDK? Jeffrey B. Kopp, M.D. Dr. Kopp: I am fortunate to lead a translational research group at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), which is part of the National Institutes of Health. Our mission is to develop a better understanding of the disease mechanisms responsible for focal segmental glomerulosclerosis (FSGS) and to develop more effective and less toxic therapies. I also serve in the United States Public Health Service, with a rank of Captain. My primary mission at NIH is to carry out basic and clinical research in FSGS. I also deploy for public health emergencies, such as natural disasters. Thus, I participated in the medical response to Hurricanes Katrina and Ike. SIDE NOTE: What is NIH? Dr. Kopp: The NIH is a federal biomedical research facility located in Bethesda, MD. The campus includes a 240-bed Clinical Research Center and extensive outpatient clinics. Every patient who comes to NIH participates in a research protocol. Some protocols involve novel treatments and other protocols involve giving samples for research. NIH physicians may give advice about standard therapies that can be used. There are no charges for any medical care provided by the NIH Clinical Center. NKI: What do you enjoy about CKD research? Dr. Kopp: CKD, and particularly glomerular diseases (such as FSGS), are incompletely understood, and the available therapies are not ideal. I like the challenge of understanding and treating these diseases, and most of all I like the opportunity to improve the lives of patients with these conditions. NKI: The newest clinical trial for FSGS, MCD, and MN patients at the NIH is looking at MaNAc as a treatment option. Why did you decide to study MaNAc? Dr. Kopp: A colleague at NIH developed mice unable to make ManNac. She found that these mice developed glomerular disease soon after birth. This disease resembled a human glomerular disease, minimal change disease. Providing extra ManNAc orally to the mice cured the kidney disease. This prompted the question: can we use ManNAc to induce remissions in our patients? Chemical Structure of ManNAc NKI: What is ManNAc? Dr. Kopp: Perhaps the word sounds to you like manna, the food the Israelites found in the desert and that helped sustain them. There is a tree in Europe that exudes a sweet white resin, similar to the sap of the sugar maple, and people who knew the Bible story called the tree the manna tree. A chemist found a distinctive and novel sugar in the manna resin, and he called the new sugar “mannose”. NKI: Does ManNAc occur naturally in the body? Is it found in food? Dr. Kopp: ManNAc is a natural product and essential for good health. Our food does not contain much ManNAc. Our bodies make ManNAc, which is converted in our cells to mannose. This in turn is converted to sialic acid, which is put on many proteins. All of these are sugars, but they differ from glucose in that they are not related to diabetes and they are present in very small amounts, so that they do not add calories in the diet. NKI: What is the reason for believing that ManNAc might be useful in treating glomerular diseases? Dr. Kopp: Podocytes are cells on the outside of the kidney glomeruli and serve to prevent plasma proteins from leaking into the urinary space. Many patients with glomerular diseases have lost sialic acid from the proteins on the podocyte. We think that providing extra ManNAc might promote the return of sialic acid to podocyte proteins and that this might improve podocyte function. We see some evidence in mouse models of FSGS that supplemental ManNAc in the diet helps treat these mice. NKI: What is involved for patients in this study? Dr. Kopp: Patients will provide their medical records for review by the NIDDK team. We also review the kidney biopsy materials from past kidney biopsy. No kidney biopsy is done as part of this study. If patients appear to qualify for the study, they will come to NIH for an outpatient visit for evaluation and to discuss study participation. NKI: Is travel to NIH paid for? Dr. Kopp: Travel to NIH can be arranged and provided by NIH. If overnight accommodation is needed, NIH can provide this also. NKI: Why are patients required to stay at the NIH during this study? NIH Headquarters Dr. Kopp: The study requires being an inpatient for 11 days, either as a single stay or as two stays of five and six days. The reason for the inpatient stay is allow frequent sampling of blood and urine and for safety, to be sure there are no side effects. NKI: What can patients do with any “free time” during the study? How much free time do you expect patients to have? Dr. Kopp: During the first five days, there are frequent time points for sample collection. During the second six days, samples are needed at 8 am and 8 pm. There is extensive free time that patients can use as they like. There are many activities that can help pass the time at NIH • Patient Computers combination television and computer (with Internet access) at most patients’ bedsides to provide access to games, web browsing, and personal e-mail via the Internet • Patient Library has more than more than 5,000 books, including a selection of current best-sellers, reference, foreign language, large-print, picture, and audio books • Clinical Center’s Fine Art Program has more than 2,000 works of art. Most artwork remains on permanent display throughout the hospital, but there are six galleries on the first floor that change every eight weeks. A walking tour is available to assist patients, caregivers and visitors in their enjoyment of the artwork on display. •Recreation Therapy programs include: o Arts and crafts o Music o Games and sports o Social events o Exercise o A large selection of DVD movies o Instruction in coping skills such as relaxation, enhanced communication, and stress management • Spiritual Care Department offers Catholic, Jewish, Islamic, and Protestant services in the interfaith chapel • Business Center has four PCs and four MACs (all with Internet connection) as well as a combined printer/copier/FAX and telephones are available. NKI: Who can participate in the ManNAc study? Dr. Kopp: We are recruiting adults (age ≥18 years) with a primary glomerular disease, including minimal change disease, FSGS, and membranous nephropathy, and with nephrotic range proteinuria (urine protein/creatinine ratio > 2 g/g). Exclusion criteria include having diabetes mellitus and receiving pulse therapies, such as rituximab. Monetary compensation is provided. NKI: How do I get more information about the study? Dr. Kopp: The study, like all clinical research studies, is described at clinicaltrials.gov. You also contact the study research nurse, Emily Brede, RN at Emily.brede@nih.gov
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.
Your Advocacy at Work – New Funding for FSGS Research May 12, 2016 by Kylie Karley 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! FY 2015 Discovery Award Suzie Pun – University of Washington FY 2015 Investigator-Initiated Research Award – Partnering PI Option Ali Gharavi – Columbia University Medical Center Simone Sanna-Cherchi – Columbia University Medical Center Suzie Pun – University of Washington 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!
Advocacy in Action – Nephrotic Syndrome Research Funding Support Letters March 25, 2016 by Kylie Karley Thank you to all of you who wrote to your Senators and Representatives asking them to support funding for Nephrotic Syndrome and FSGS research! Through your efforts, appropriations letters were sent to relevant subcommittee chairs in the House and Senate encouraging them to increase funding for these diseases. Four Senators signed the Senate letter and 27 Representatives signed the House letter. Background Each year, Congress decides how much federal funding should be applied to medical research activities and provides guidance to the National Institutes of Health (NIH) on what conditions legislators are particularly interested in. Recently, Members of Congress have been deciding on the level of NIH funding for fiscal year (FY) 2017 and crafting the accompanying list of research recommendations. As a result of grassroots outreach, the community of individuals affected by glomerular diseases has educated many Member of Congress who have become champions on research and patient care issues. House Letter On behalf of the community, Congressmen Ryan Costello, Ted Deutch, and Alcee Hastings recently circulated a “Dear Colleague” letter on Capitol Hill that voices strong support for advancing research into FSGS and related conditions at NIH. We asked the entire NephCure community to encourage their representatives to sign on to the letter and the response was overwhelming! Click here to see the letter and all 27 signatories. Senate Letter On the Senate side, Senator Debbie Stabenow lead a letter to the Defense Appropriations Subcommittee asking them to include FSGS as a condition eligible for study in the Peer-Reviewed Medical Research Program in the Fiscal Year 2017 Defense Appropriations Bill. Click here to read the letter and see the signatories.