Rare Disease Day: Letter from the CEO, Josh Tarnoff February 28, 2022 by Lauren Eva Today is February 28th, Rare Disease Day, a global day of recognition of the 7,000 rare diseases that more than 300 million people face worldwide. I wanted to take this day as an opportunity to share with you more about NephCure’s plans for 2022 and how we will continue to change the story of rare kidney disease by elevating and raising awareness of these diseases, supporting patients and families who struggle with them, connecting them to physicians who specialize in their conditions, and after 20 years of research support, bringing about the first wave of disease changing therapies. Our Focus in 2022: In-Person Gatherings Mental Health Support The Possibilities of Genetic Testing Health Equity: Access for All Expert Care from Rare Disease Doctors 2022 is a year full of renewed promise and hope for our families. After suffering through two years of pandemic-induced lockdowns, social distancing, and increased risk mitigation measures, we all yearn for a semblance of normalcy. We are excited to be offering our in-person annual NephCure Patient Summit again this year, with more than 150 registrants coming to gather with us in Orlando. (Attendees can also join virtually.) Throughout the year, we will be out in our Regional Communities, connecting with volunteers, new families, and other stakeholders face-to-face and forging new and deeper relationships with our grassroots NephCure members. Social isolation and the enhanced stress of the pandemic for chronically ill and immunocompromised individuals also continues to bring to the forefront the importance of mental health for our community. May is Mental Health Awareness Month, and we will be sharing programming that underscores a struggle that post-transplant patients face: living with a gift while also dealing with the risks of lifelong immunosuppression or facing recurrence of their original kidney disease in the new organ. We will also shed light on the “invisibility” of kidney disease—with many in patients’ circles not realizing that they are sick or given cause to take the diagnosis seriously. Kidney failure will impact every aspect of your life, as anyone on dialysis will tell you. This year, we are also excited about the promise of what broader awareness and availability of genetic testing opportunities and an increased investment in broad utility and precision medicine treatments will unveil. Patients who haven’t responded well to treatment, patients with kidney disease in their family, especially those of African descent, and patients on the transplant list and their potential donors are all great candidates for genetic testing. And now for the first time ever, there are drugs in development for specific kidney disease mutations and genomic pathways. What does this mean for patients? It means that as research progresses, new treatments will become more effective for you and your individual disease, and that many of them will not just treat your symptoms, but may truly change the course of your disease. We anticipate that, if successful, these new targeted treatments could start to become available as soon as two years from now. Putting new and better treatments into the hands of our patients is what NephCure is here for—it’s a key part of our mission. But what happens when not all community members are represented in trials and research? What will happen once new treatments are finally approved? Now that there is investment in new treatments for rare kidney diseases, we are hyper-focused on ensuring access for all to these clinical trials, new potential treatments, and the expert care our disease community requires. We have spent the past few years forging partnerships in communities of color who are at greater risk for rare kidney disease, and we are eager to share our joint work together more broadly this year, with increased programming, one-to-one patient support, and new government advocacy initiatives that aim to address the root inequities in kidney health and access. Finally—and most importantly if you are a patient or patient caregiver—in case you haven’t caught on, there is a wave of innovation, new research, and new potential treatments happening right now for rare kidney diseases. So, if your doctor isn’t talking to you about trials or new treatments, to be blunt: you need a new doctor! There is too much available right now to ignore the possibilities in trials and other new innovations in care. Reach out to us to get connected to a NephCure Specialist with specific clinical background and research in your rare disease. They will be able to provide you with the most up to date care and clinical trial opportunities. Hope to see you in person (or online!) this year and thank you for being part of this community. Sincerely, Joshua Tarnoff Chief Executive Officer
The Difference a Doctor Makes: Christine’s Fight for Daughter’s Health December 8, 2021 by Kylie Karley Christine Floto and her daughter, Madi Madi was only 4 years old when she faced potential kidney failure. It took Madi’s mom Christine years to realize these harsh medications were not only failing to improve Madi’s kidneys but were making her sicker overall. Madi’s nephrologist insisted the current medications were the best they would get. Christine asked for further testing, but they denied her requests as Madi’s kidneys worsened. Then Christine found NephCure. She attended a patient summit and broke down in tears when she learned there were better options for her daughter. Madi no longer had to suffer. Generous support from people like you helped NephCure connect Christine with an expert doctor who listened to her concerns. He ordered a genetic test, revealing that Madi has an extremely rare genetic cause of focal segmental glomerulosclerosis (FSGS). Madi was enrolled in a clinical trial, which gave her access to cutting-edge medication. With the help of NephCure and her new doctor, Madi got her life back. Her kidney disease is slowing, she gained 30 pounds, and is doing better than she has in years! “Through NephCure, I learned more about Madi’s disease and gained the confidence to seek care from top specialists,” Christine said. We have entered a new, unprecedented era of rare kidney disease care. Now more than ever, NephCure is laser-focused on ensuring all patients have access to the latest research and care. NephCure offers online education and support programs that empower rare kidney disease patients and their families, just like Madi and Christine. Through our NephCure Specialists program, we help connect patients with expert doctors who provide the latest treatment options. We are expanding local communities to help connect people to peer support, but more work is needed. “We will forever be grateful for NephCure’s education and support,” Christine said. “It’s given our family our life back.” Will you donate to help us ensure that every patient receives the best care and support possible? To make a contribution to our organization before the year end, please click here. Thank you in advance for your generosity.
NBA Hall-of-Famer Alonzo Mourning Shares Personal Story to Raise Kidney Disease Awareness November 18, 2021 by Kylie Karley KING OF PRUSSIA (Nov. 18, 2021) – NBA hall-of-famer Alonzo Mourning was at the height of his basketball career—he had just won gold in the 2000 Summer Olympics when he noticed extreme swelling throughout his body and a lack of energy. A routine physical exam showed abnormalities, and eventually, Mourning received a diagnosis of a rare, protein-spilling kidney disease called focal segmental glomerulosclerosis (FSGS). “I said ‘Doc, am I going to die?’ He paused; he took too long to answer me. And he said, ‘We have no known cure’… ultimately, he said, ‘In about 10-12 months you’ll probably be on dialysis,’” Mourning said as he recalled the jarring day. Mourning, who missed the entire 2002-2003 season due to kidney disease and later went on to win the World Championship with the Miami Heat in 2006, publicly recounted his personal journey with FSGS in a video for NephCure Kidney International’s kidney disease awareness campaign, debuting Nov. 18. In highlighting Mourning’s story, NephCure aims to reach those who are at risk for kidney disease and to educate the public about the signs and symptoms of these conditions. Black Americans are 4-5 times more likely to develop kidney failure than white Americans, and 1 in 8 are at risk for a genetic form of kidney disease. A variation on the APOL1 gene contributes to this disparity. “We are proud to work with Alonzo Mourning in sharing such an important message that will inspire and inform others who fall within this at-risk population. Our goal is to find a cure for this debilitating kidney disease, as well as educate and support those who are affected by it,” said Michael Levine, NephCure Board President and kidney disease patient parent. This awareness campaign comes just months after NephCure launched its Health Equity Initiative, with the goal of ensuring equitable access to advancements in research, treatments, and care, and to reach individuals from communities of color earlier in their disease progression, preventing or delaying their need for dialysis and transplantation. Support for this video and the awareness campaign was provided by Vertex Pharmaceuticals, Travere Therapeutics, and other funders of the Health Equity Initiative. To watch the entire video with Alonzo Mourning, click here. About NephCure Kidney International NephCure Kidney International’s mission is to accelerate research for effective treatments for rare forms of Nephrotic Syndrome, and to provide education and support that will improve the lives of those affected by these protein-spilling kidney diseases. Founded in 2000 by a group of committed patient parents, NephCure has invested more than $40 million in kidney disease research and helped create a landscape where there are now more than 30 interventional drug trials for primary glomerular kidney diseases. NephCure is a U.S. tax exempt 501(c)(3) public charity. Learn more at NephCure.org. ###
The Eyes Behind the Microscope: Meet Dr. Astrid Weins September 30, 2021 by Kylie Karley Astrid Weins, MD, PhD, is an Associate Pathologist at Brigham and Women’s Hospital in Boston, MA, and an Assistant Professor of Pathology at Harvard Medical School. Her research focuses on understanding acute Nephrotic Syndrome and podocyte injury. She does this by combining observations with state-of-the-art imaging and tissue interrogation techniques. Learn more about her work on Minimal Change Disease (MCD) and about the TRACTION-2 trial, Goldfinch Bio’s clinical research trial investigating GFB-887 with the hope of preventing the progression of kidney disease in patients with treatment-resistant Minimal Change Disease, FSGS, and Diabetic Nephropathy. The TRACTION-2 trial is the first large-scale clinical trial opportunity for Minimal Change Disease patients, and is also available for patients with FSGS and Diabetic Nephropathy. Why are you interested in Minimal Change Disease (MCD)? Astrid Weins, MD, PhD I have studied kidney, and specifically, podocyte biology for many years. The podocyte is a unique and fascinating cell with a critical function in regulating urine filtration. It is the main target of injury in MCD. As a kidney pathologist, I love scientific investigation, and my strong belief is that knowing the cause of a disease is the key to its cure. Minimal Change Disease deserves so much more attention than is has received in the past. People often refer to it as a “benign” condition, because in many cases it responds well and fast to steroids. However, there are some children, and even more adults that don’t respond to this therapy, and we have currently no way of predicting who will respond and who won’t. Once we understand what causes a disease, we can develop rationales for choosing and developing specific, targeted therapies. What makes MCD different from other protein-spilling kidney diseases? First, it’s of rapid onset and in most cases also shows a rapid response to therapy. Second, we have had no idea what causes it, other than that we presume it’s caused by a circulating factor. Third, in contrast to most other protein-spilling diseases, it is more common in children than in adults. Fourth, the kidney biopsy shows no significant changes by light microscopy, although the ultrastructural changes to the podocytes are widespread and severe. Hence, the term “minimal change” disease (which refers to its unremarkable light microscopy appearance) is really a misnomer. Can you summarize your research on MCD and its significance? In our clinical practice, my colleagues and I came to recognize a unique feature in biopsies from patients with MCD, which suggested that the injury might be caused by an autoantibody against podocytes. An autoantibody-mediated cause would make sense, since antibodies are circulating in the blood, are filtered by the kidney and can access the podocytes. We hypothesized that the target of such an autoantibody would have to be an exposed podocyte protein, which led us to test for autoantibodies against nephrin, an essential component of the filtration barrier. Indeed, we identified anti-nephrin autoantibodies in a subset of adults and children with MCD both circulating in their blood and bound to nephrin in their kidney biopsy. This is a huge breakthrough in our understanding of this condition, as we can now define a subset of patients as suffering from an autoimmune disease. What are you looking at in your NephCure-funded grant, “Autoimmunity in Primary or Recurrent Podocytopathies – Clinicopathologic correlation and mechanistic studies”? In this grant, we are now extending our studies to patients with primary FSGS and recurrent FSGS after transplant. Since the changes to the podocytes in MCD and primary and recurrent FSGS are virtually indistinguishable, we hypothesized that a subset of patients with primary and recurrent FSGS also have circulating antibodies that target nephrin. Our preliminary findings demonstrate that this is indeed the case in a subset of patients from our own institution. Now we need to expand our studies to more samples. Can you tell us about treatment-resistant MCD versus steroid-sensitive MCD? The vast majority of MCD is steroid-sensitive, meaning that these patients will respond well to steroids. A small subset of these patients, however, will remain steroid-dependent, meaning they cannot come off this therapy or their Nephrotic Syndrome will relapse. This is not a good thing because 1) steroids have harsh side effects, especially during long-term use, and 2) often additional immunosuppressive agents are given that may add even worse side effects. Treatment-resistant patients never fully respond to steroids, and often receive a long list of unsuccessful immunosuppressive therapies, and despite all efforts may continue to spill protein and experience ongoing podocyte damage. Why do you think so many people are diagnosed with MCD to later be re-diagnosed with FSGS? Two possible reasons: 1) Sampling: With exception of the scarring, both MCD and Primary FSGS are indistinguishable on biopsy. Since we only look at a tiny sample of biopsied kidney tissue, and early FSGS can be very focal, we may miss scarring already present in your kidney. 2) Disease progression: A disease does not start out with scarring. Being diagnosed with MCD in your first and with FSGS in a later biopsy does not mean you were re-diagnosed; it just means that the initial injury was severe enough to have led to scarring during the course of the disease. Based on my experience, I believe that MCD and Primary FSGS are related and can represent expressions of the same initial disease process. This means that understanding one could enhance our understanding of the other. Why do you think there have not been trials for Minimal Change Disease patients until now? MCD has been generally perceived as a rather “benign” condition. Many patients respond well to a limited course of steroids, and complications remain rare, so there was no perceived acuity to start trials. We also haven’t had sufficient molecular understanding of this disease to provide a rationale for trying new or different treatments. Our studies may change how clinicians view this disease and may initiate such trials. Goldfinch Bio is a biotechnology company based in Cambridge, MA which focuses on advancing kidney precision medicine. Its mission is to deliver disease-modifying precision medicine that brings hope and renewed quality of life to people living with kidney diseases. Goldfinch Bio’s TRACTION-2 clinical research trial is evaluating an investigational precision medicine, GFB-887, for the potential treatment of treatment-resistant Minimal Change Disease, FSGS, and Diabetic Nephropathy. The purpose of the trial is to determine if GFB-887 is safe and may help people who have high levels of protein in their urine due to kidney diseases caused by podocyte injury. To learn more about the TRACTION-2 clinical trial, click here. To see a full list of clinical research opportunities and find the right trial for you, visit KidneyHealthGateway.com. This article was developed in partnership with Goldfinch Bio, Inc.
Everything You Need to Know About Travere’s New Clinical Trial for Children, EPPIK September 2, 2021 by Kylie Karley Travere Therapeutics has recently launched their Phase 2 pediatric clinical trial, EPPIK (Evaluating Problematic Proteinuria in Kids) which is aimed at helping children with FSGS, MCD, IgAN and other rare kidney diseases. We know that with a clinical study specifically designed for kids, parents and caregivers may have some questions. We asked Travere to answer some of these questions and have complied an FAQ list for our community around EPPIK. What is the EPPIK study? EPPIK (Evaluating Problematic Proteinuria in Kids) is a Phase 2 study of children 1-17 years old with focal segmental glomerulosclerosis (FSGS), minimal change disease (MCD), IgA nephropathy (IgAN), also known as Berger’s disease, IgA vasculitis (IgAV), also known as Henoch-Schönlein purpura, or Alport syndrome (AS). These rare kidney diseases are associated with progression to end-stage kidney disease and currently have limited or no treatment options. This study aims to further understand if an investigational therapy, sparsentan, can help the kidneys filter protein and slow the decline of kidney function. The amount of protein found in the urine (called proteinuria) is seen as a marker of kidney function. Lowering proteinuria levels is associated with better kidney health outcomes. What is sparsentan? Sparsentan is a novel Dual Endothelin Angiotensin Receptor Antagonist (DEARA) – this means it is a dual acting, highly selective antagonist of both the endothelin A receptor (ETAR) and the angiotensin II subtype 1 receptor (AT1R). In the EPPIK Study, sparsentan is taken once a day orally. What is a Phase 2 study? A Phase 2 study is a clinical trial that helps researchers determine how safe, tolerable and effective an investigational drug may be in specific patient populations, such as those noted above. While the EPPIK study is a Phase 2 study, sparsentan has been studied in another Phase 2 study as well as two Phase 3 studies involving approximately 880 patients (some of whom were children). The purpose of the EPPIK study is to gain further experience on the use of sparsentan in children. How long does this study take? Patients who meet all eligibility criteria and are enrolled in the study may expect to participate in the study for about 2 years and 3 months. Will you be enrolling children with congenital Nephrotic Syndrome or infantile Nephrotic Syndrome? Yes, children ages 1-17 with one of those syndromes who meet the study criteria will be able to participate in the EPPIK Study. The specific disorders we are looking for are noted above in the answer to question 1. How many children and young people are you looking to enroll in this study? We will be looking to enroll approximately 57 children in the EPPIK study. How many study sites are there available? Where are these sites located? Sites will be in the United States, UK, and various countries in the EU (France, Germany, Italy, Spain, Netherlands, Poland, Sweden). The final list of sites has not been fully determined yet. Because this study is for children, how is it different than a study for adults? The main difference is how much blood is drawn from the children to do all the tests necessary to evaluate sparsentan in the study. Patient safety is always our number one priority, and, with children, we won’t sample as much blood as we would from an adult. We narrowed the number of tests and worked with the central lab to be able to get results from a smaller sample size. We also must ensure that we adequately inform both the child who might participate in the study and the child’s parents/guardians about all the requirements the study has as well as any risks that may be associated with participating in the study. We do this by developing different study assents or ways to communicate what the study entails so that participating families understand the purpose of the study and what is involved. Are you asking kids about the taste, smell, etc. of the study drug? Yes, we will be asking the children to answer simple questions on how the drug tastes, smells, feels, etc. How do you determine which participants will be required to have pregnancy testing or take birth control? We realize this is a delicate subject for some children and their parents, but it is very important that any female child who has had her first menstruation period take birth control according to the protocol. This class of drugs is known to potentially cause harm to a developing fetus, and therefore we do not want any female participant who is able to have a child to become pregnant. Is there flexibility where lab samples can be collected for my child? Is there an option for home care visits to collect these samples? Yes, there is some flexibility in where labs are taken. If the child can’t make it to the clinical site to have the labs drawn, which is always the preferred way, we have contracted with a company that will come to the patient’s home or other convenient location, to draw the labs and send them in for testing. Does my child have to stop the medications they’re on? What drugs can they remain on? That depends, if they are enrolled in this study, they will need to stop any drug that functions similarly to the investigational drug. That is, if they are on an ACE inhibitor or ARB, they will need to stop those drugs at least 2 weeks before they begin taking the experimental drug and will not be able to take them while they are participating in the study. They will be able to continue with certain blood pressure medications if not in the same drug class, as well as many other medications they may be on. The Investigator will have a complete list of drugs that are allowed and not allowed. What will happen to the results of this clinical study? After all the patients have been enrolled and have completed the study, the data will be analyzed to see if it was successful in reducing the amount of protein in the urine and if it slowed the decline in kidney function as measured by estimated glomerular filtration rate, or eGFR. How well the drug was tolerated, that is, the safety profile, will also be analyzed. Those results will, in all likelihood, be put into a document known as a manuscript and published in a scientific journal. Data will also be added to the study listing on the clinicaltrials.gov website at the end of the study. If my child is in another trial studying sparsentan, do they have to enroll in this new study? If so, will their study site change? No, if your child is participating in another trial with sparsentan they would not be eligible to join the EPPIK study. They would stay in the study they are currently in. For more information about EPPIK, contact medinfo@travere.com
Kidney-Friendly Recipe: Italian Herb Grilled Chicken with Grilled Veggies and Quinoa September 1, 2021 by Kylie Karley As kids head back to school and the long summer nights slowly slip away, celebrate the end of the season with a delicious meal on the grill—perfect for Labor Day Weekend! This recipe comes from NephCure’s Chef Sachet, a patient parent whose 12-year-old son Aiden was diagnosed with FSGS in January 2017. Aiden’s kidney disease rapidly progressed—just five months after diagnosis, he ended up on dialysis and eventually went on to receive a kidney transplant. As a kidney disease caregiver, Chef Sachet says ‘it’s important to me to keep kidney-friendly recipes in mind!’ Yield: 4 people Prep time: 15 min Cook time: 25 minutes Sodium: 139mg per serving Ingredients: 4 6-oz chicken breasts (with tenders attached) IMPORTANT NOTE: Check the sodium content on the chicken breasts to make sure they are no higher than 75 mg of sodium per 4 ounce serving or no higher than 113 mg per 6 ounce package. 2 cups of quinoa (any kind works) 1 large zucchini or squash 1 lime 1 lemon ½ handful of fresh parsley, minced 2 sprigs of fresh oregano, minced 2 sprigs of fresh thyme, minced 2 heads of fresh garlic, minced ¼ cup of extra virgin olive oil (EVOO) Pepper (to taste) 4 cups of no-salt veggie stock 2 Tbsp. of unsalted butter Instructions: First, set your chicken breasts aside in a large bowl. Mince all herbs and toss in chicken with garlic, pepper, lemon juice, and a drizzle of EVOO. Coat chicken well and marinate for 15 minutes. Heat the vegetable stock in large pot on medium-high heat until simmering. Add quinoa. Lower heat, add 2 Tbsp. of butter and a sprig of thyme. Let cook until all of the liquid is absorbed. Once most liquid is gone, turn off the heat, and cover the quinoa until serving time. Once the quinoa is cooking, cut vegetables into thick slices. Add pepper, EVOO, and a squeeze of lime, and then place them on the grill. Remove chicken from the fridge and start to grill it: 7-10 minutes on each side until the internal temperature reaches 165 degrees Fahrenheit. Chef’s Tips: Do not flip your chicken constantly when grilling. It will take a long time to cook and will dry out. Plus, you won’t get those awesome grill marks! Raw veggies can take a while on the grill. Season and lubricate them with oil ahead of time, but don’t add too much oil. It will just burn off and char the veggies. When using store-bought stock, always use low-sodium or no-salt varieties.
Get to Know Dr. Matt Sampson August 26, 2021 by Kylie Karley NephCure is proud to honor Dr. Matthew Sampson as our 2021 Boston Countdown to a Cure Medical Honoree, recognizing his outstanding contributions to nephrology and the NephCure community. Dr. Sampson is a Pediatric Nephrologist at Boston Children’s Hospital and holds the Warren E. Grupe Endowed Chair in Nephrology. He is also an Associate Professor of Pediatrics at Harvard Medical School, and an Associate Member of the Broad Institute, where he’s involved in the Kidney Disease Initiative. Learn more about Dr. Sampson’s research on the Sampson Lab website. The second annual Boston Countdown to a Cure will be held on Saturday, September 18th, 2021 — click here for event tickets. Why did you choose to study nephrology, and specifically rare kidney diseases? Dr. Sampson: During my training, I took care of a lot of children with kidney disease. I was struck by how little we knew about the underlying causes of these conditions. The treatments we had for them were oftentimes not specific and created as many side effects as they did opportunities to help their condition. It was this combination of many children being quite sick and not exactly knowing why they were sick, and then recognizing the current medications that we had for them were insufficient to help treat or cure the disease that really drove me to study these rare kidney conditions, specifically Nephrotic Syndrome. Can you tell us about some of your more recent work? Dr. Sampson: My group’s general focus is to map genetic causes and contributors to Nephrotic Syndrome and to understand how these genetic risk factors are contributing to this disease. If we understand how the genes contribute to disease, then we can work with collaborators to develop drugs for these genetic forms of kidney disease. In addition, classifying patients with the genetic form of this disease can be helpful in explaining to parents and children why they have their condition. Even if we don’t yet have a treatment or cure, we may be able to tell them how the disease can progress for children who have the specific genetic form of the condition, and we may be able to suggest certain treatments or set expectations based on that. A couple of areas that we’re really focusing on right now are APOL1-associated kidney disease, which is a disease that primarily affects patients of African ancestry. We know that about 60-70% of self-reported Black patients who have FSGS have the APOL1 form of their condition. If we can understand and find mechanisms of APOL1 disease, we can hopefully help create medicines for treatments and cures. Additionally, we are focusing on finding the genetic contributors to immunosuppressive sensitive Nephrotic Syndrome [i.e., Steroid Sensitive Nephrotic Syndrome (SSNS)]. I think a lot of times doctors think that if patients are immunosuppressive sensitive, meaning they respond to medication, then they are fine, but what they don’t recognize is how poisonous some of these medications are and how desperately families are seeking treatments that don’t come with all the side effects. What work of yours are you most proud of? Dr. Sampson: I think what I’m most proud of is that over the past decade, since I established my lab in Michigan, our group has been comprised of hardworking, motivated individuals who’ve collectively gone after the genomics of Nephrotic Syndrome. We’ve created a group of researchers who can contribute meaningfully to these efforts, deliver results or ideas when called upon, and lead efforts together in a collaborative, collegiate way. Why is the genetic side of kidney disease so important to study and learn more about? Dr. Sampson: Genetic forms of this condition, whether they’re a cause or contributor, really represent a root cause and let us know what makes this disease start or relapse. In doing that, genetic mapping can point us toward specific molecular classifications of disease, which allows us to be more precise in our care of patients. Secondly, by figuring out the genetic causes, it can point us toward specific treatments. Rather than treating the symptoms themselves, we can try to cut the disease off at its origin. What does it mean to you to be named this year’s Boston Countdown to a Cure Medical Honoree? Dr. Sampson: It really means the world to me to be recognized and honored by an organization that has been so meaningful to me since the beginning of my career. NephCure has been instrumental in supporting my efforts through grants and kind words. I found NephCure during my fellowship, and they’ve been supporting me with a lot of energy and enthusiasm throughout my career. They’ve also helped to really connect me with patients. Being involved with NephCure through patient days, patient presentations, and meeting families at other NephCure-sponsored events, it’s clear to see who we’re fighting for here and why I’m going to work every day. It’s a wonderful group to be associated with, and to be honored this year for a contribution that we’re making as a team feels amazing. What has it been like to work with NephCure over the years? Dr. Sampson: It’s great to have a patient advocacy group that is so focused on these rare diseases. There are not many people or organizations in this world that are speaking and specifically advocating for patients with Nephrotic Syndrome in such a professional way. As much as I would like to do that, I have so much work to do in terms of research, papers, grants, and managing my team that I don’t have the opportunity. To know there’s a highly competent group of professionals and volunteers that are coming together on this front is incredibly special and important.
Encouraging interim results from Travere’s PROTECT trial for IgAN patients August 20, 2021 by Kylie Karley Interim results have been announced from Travere Therapeutic’s PROTECT study, and although preliminary, the data look promising for IgA Nephropathy (IgAN) patients. Travere’s ongoing Phase 3 trial is studying the drug sparsentan in IgAN patients. On average, patients who received sparsentan experienced a nearly 50% reduction of proteinuria after 36 weeks. That’s roughly three times more than the active control. Active protein-spilling (proteinuria) leads to kidney damage. The priority for every patient should be to stop or reduce protein in their urine. To date, sparsentan has been generally well tolerated by those in the study. Unlike steroids and other commonly prescribed off-label drugs for progressive kidney diseases like IgAN, sparsentan is not an immunosuppressant. This news comes just a few months after the interim data from Travere’s Phase 3 DUPLEX study evaluating sparsentan in FSGS, also achieved its interim proteinuria endpoint. The PROTECT and DUPLEX studies are some of the largest studies to date for IgAN and FSGS patients, respectively, to reach this level of trial data. It’s possible that these results, could ultimately lead to a potential approval of sparsentan. To read more about Travere’s interim results from the PROTECT Study in IgAN, click here. Want to learn more about this research and what it could mean for patients with IgAN and other progressive, protein-spilling kidney diseases? Join NephCure’s Nurse Kristen on Facebook Live on August 25th where she discusses this news in further detail — breaking down the study results, who could be impacted by this research, and what the timeline could be to see new treatments for IgAN, FSGS, and other rare, protein-spilling kidney diseases.
Bala’s Battle with FSGS August 19, 2021 by Rodrigo Campos-Sánchez At the age of 20 years old, Bala Krishnalal’s life was forever changed by the results of a kidney biopsy. In 2014, after suffering from recurring fevers for two years, Bala Krishnalal was diagnosed with focal segmental glomerulosclerosis (FSGS). Like many FSGS patients, he was the first in his family to ever develop the rare kidney disease. “The doctor I was seeing at the time told me that something was wrong with my kidneys. The doctor needed to do a biopsy test on me to understand what was truly happening to me and what damage was possibly being done also,” Krishnalal said. After his kidney disease diagnosis, started what Krishnalal calls the real challenge — finding a doctor who specializes in rare, protein-spilling kidney diseases. He switched doctors multiple times until he found one who listened to him, was knowledgeable about his rare disease, and ultimately made him feel comfortable. “I changed doctors so many times because they did not treat me as a human being. They all had different opinions and treatment plans, which I did not really appreciate,” Krishnalal said. “But my current doctor is so much better. This person gives me so much confidence and listens to my opinions when we talk about prescriptions.” Although Krishnalal never experienced any swelling, one of the more common symptoms of FSGS, he did have a constant runny nose and frequent flu. He stresses the importance of maintaining a kidney-friendly diet and keeps a close eye on his salt and sugar intake. Krishnalal’s diagnosis came at the height of his college career. Being a student, he was also fully dependent on his parents. While Krishnalal’s mother and father were helping him pay for his education, there was not much left to put toward medical bills. “It affected me mentally and emotionally. The diagnosis only added more to what we thought was already hard to pay for,” Krishnalal said. His father, who worked as a taxi driver for 20 years, had to turn to other family members and close friends to borrow money in order to cover his son’s medical bills. “It was a very rough phase in my life, but with God’s grace, currently we are doing well economically. Things are better since I received a job after college,” Krishnalal added. Since graduating, Krishnalal secured a position as an automotive product certification engineer. Thankfully, FSGS does not affect his work ability. Despite his kidney disease, he feels completely fit, comfortable and enthusiastic at work. Seven years after his diagnosis, Krishnalal sees himself as a fighter, a warrior and as a man with FSGS who still has a million dreams ahead of him. “Now that I am on my own and am thinking about building a family with my significant other, I feel as if I am under a lot of pressure. I have many responsibilities I need to take on and always remember the fact that I do have FSGS no matter where I am,” he said. “It is challenging, yet the day will come when I overcome my disease, and many others will also.” Krishnalal is just weeks away from his wedding on September 10, 2021. “I’m overly excited. It is incredible that someone looked past the fact that I have FSGS. It is all about a positive mindset. One should not worry about their medical conditions yet worry about what is to come the next day. The future will be amazing,” Krishnalal said. Additionally, Krishnalal volunteers as a NephCure advocate. He actively connects with new patients, provides them with educational resources, and helps spread awareness for FSGS and other Nephrotic Syndrome related diseases. “I am here to support anyone in case of anything concerning FSGS. I do reach out to a lot of people, and I understand that the ones I do talk with already know a lot about the disease. Yet, there is still so much that can be done,” Krishnalal said.
¿Que debo saber de síndrome nefrótico?: What should I know about Nephrotic Syndrome? July 20, 2021 by Rodrigo Campos-Sánchez Dr. Sergio Infante Durante nuestro webinar de NephCure U: síndrome nefrótico 101 en español, dirigido por el Dr. Sergio Infante, MD, recibimos varias preguntas de pacientes y cuidadores acerca del síndrome nefrótico en sí, ensayos clínicos, y cómo COVID-19 afecta a aquellos con enfermedades renales raras que derraman proteínas. A continuación, encontrarás las respuestas del Dr. Infante a estas preguntas. Para ver el seminario web completo sobre NephCure U (en español) que explica los fundamentos del síndrome nefrótico y cómo gestionar su atención a través de la era COVID-19, presiona aquí. ¿Cómo puede un paciente inmunosuprimido protegerse contra COVID-19? Uno no solo debe tener cuidado contra el COVID-19. Sino, cualquier otra enfermedad. Con COVID-19, si tenemos que poner un poco más de atención. Uno está más predispuesto a tener el COVID-19 cuando uno está deprimido. Uno debe utilizar doble máscara y tener distancia de las personas. No se sabe cuando uno está infectado o ha recibido la vacuna. ¿Crees que me debo poner la vacuna? Si, y porque la vacuna funciona muy bien. Pero también existen ciertas dosis de medicamentos o ciertos tiempos entre los medicamentos en donde la vacuna no va ser efectiva. El tiempo para colocar la vacuna es muy importante. Es muy importante que uno se comunique con el equipo médico para poder saber cuándo hay que ponerse la vacuna. La vacuna no representa riesgos para personas inmunosuprimidas. ¿Existen ensayos clínicos para pacientes con síndrome nefrótico? Sí y también hay varios estudios que se están siendo desarrollados alrededor del mundo con diferentes terapias. Uno de los propósitos más importantes es disminuir la exposición hacia los esteroides. Eso es porque sabemos los efectos secundarios que existen en los esteroides. En la página de NephCure, existen tipos de recursos y respuestas de cuáles son los estudios que se están desarrollando alrededor del mundo en los grandes centros médicos sobre esta enfermedad. Mi médico no me ha hablado sobre ensayos clínicos. ¿Qué debo hacer? Uno debe utilizar recursos como NephCure. Muchas veces la limitación del tiempo, no nos deja que tengamos una conversación sobre estos tipo de recursos. Es muy importante armar una lista de preguntas. Yo digo esto porque generalmente cuando uno va al médico, se le olvida todo. Cuando existe la oportunidad de hablar con el médico o con alguien del equipo, luego se puede contestar esas preguntas. ¿Deberíamos preguntarle al doctor sobre otro tipo de medicamento para una persona que tiene muchas recaídas? Afortunadamente, tenemos los esteroides. Es uno de los medicamentos más fantásticos que existen. Es capaz de disminuir una gran cantidad de problemas que tenemos. Si tienen efectos secundarios, no hay duda. La utilización de los esteroides es en ciertas ocasiones indispensable porque no tenemos otros recursos. Dependiendo el tipo de enfermedades, si están de buscada por más medicamentos para poder disminuir la utilización de esteroides. Dependiendo del tipo de enfermedad qué hay, pueden existir otro tipos de recursos que podemos utilizar para disminuir la utilización de los esteroides. Pero yo pienso que debemos estar muy agradecidos con que tenemos los esteroides. ¿Existen actividades que las personas con síndrome nefrótico deben evitar, cómo hacer ejercicios o viajar? Mientras que la enfermedad esté activa y que uno tenga una gran cantidad de líquido, uno debe que tener cuidado con la piel, sobre todo. La piel es la barrera más grande que uno tiene. Es el órgano más extenso del cuerpo también. Cuando uno está reteniendo mucho líquido, es frecuente que uno tenga problemas en la piel. Es una de las cosas que uno tiene que evitar. Con viajando, no hay problemas. Poder viajar es importante y también es una parte de nuestras vidas. No hay una contraindicación con viajando. Pero con respecto a los deportes de contacto, hay que tener cuidado con tener traumas y problemas en la piel. During our NephCure U: Síndrome Nefrótico 101 en español webinar, led by Dr. Sergio Infante, MD, we received several questions from patients and caregivers regarding Nephrotic Syndrome itself, clinical trials, and how COVID-19 affects those with rare, protein-spilling kidney diseases. You can find Dr. Infante’s answers to these questions below. To watch the full NephCure U webinar (entirely in Spanish) that explains the basics of Nephrotic Syndrome and how to manage your care through the COVID-19 era, click here. How can an immunosuppressed patient protect oneself against COVID-19? One should not only be careful against COVID-19. But also, with any other disease. With COVID-19, we do have to pay a little more attention. One must double mask and keep distance from people. It is not known when one is infected or has received the vaccine. Do you think I should get the vaccine? Yes, because the vaccine works very well. But there are also certain doses of medicines or certain times in the medicines where the vaccine will not be effective. The time to get the vaccine is very important. It is very important that one contacts one’s health care team to be able to determine when to get the vaccine. The vaccine does not pose a risk to immunosuppressed people. Are there clinical trials for patients with nephrotic syndrome? Yes, and there are also several studies that are being developed around the world with different therapies. One of the most important purposes is to decrease exposure to steroids. That’s because we know the side effects that exist with steroids. On the NephCure’s Kidney Health Gateway webpage, there are types of resources and answers to which studies are being developed around the world in large medical centers about this disease. My doctor has not told me about clinical trials. What should I do? One must use resources like NephCure. Many times, the time limitation does not let us have a conversation about these types of resources. It is important to build a list of questions. I say this because generally when one goes to the doctor, one may forget everything. When there is an opportunity to talk to the doctor or someone on the team, then one can have questions answered. Should we ask the doctor about another type of medication for a person who has a lot of relapses? Fortunately, we have steroids. It is one of the most fantastic medicines available and it can reduce a lot of problems. They have side effects, there is no doubt. Steroid use is sometimes indispensable because we do not have other resources depending on the type of disease. If one is looking for more medicines to be able to decrease steroid use, that is. Depending on the type of disease, there may be other types of resources that can be used to decrease the use of steroids. But I think we should be very grateful that we have steroids. Are there activities that people with Nephrotic Syndrome should avoid, like exercise or travel? If the disease is active and one has a large amount of fluid, one must be careful with the skin. The skin is the largest barrier one has. It is the largest organ of the body as well. When one is holding a lot of fluid, one may often have skin problems. It is one of the things one must avoid. With traveling, there are no problems. Being able to travel is important and is a part of our lives. There is no contraindication with traveling. About contact sports, one must be careful about having traumas and skin problems.