Pfizer Emerging Science & Innovation Partnering Forum March 21, 2022 by Kylie Karley Leave a Comment NephCure is proud to be hosting an online seminar for interested researchers to learn more about Pfizer’s upcoming call for proposals (CFP) directed at those investigating rare renal diseases. Attendees will hear directly from Pfizer ES&I team members about the company’s drug discovery and development capabilities and available collaboration models to support translational medicine. The team will also share how an academic research collaboration with Boston University and Boston Medical Center led to an investigational compound for Focal Segmental Glomerulosclerosis (FSGS).
Precision Medicine Precision medicine is an approach to treating diseases that takes into account the individuality of the patient and the uniqueness of their disease. The ultimate goal of precision medicine is to personalize medical treatments to each patient in order to achieve the best outcomes. The emerging concept of precision medicine in nephrology has been characterized by advances in biological and genetic research. Precision medicine allows kidney doctors to use genetic testing, biomarkers, and kidney biopsy results to not only give you a more precise diagnosis, but also provide treatment options tailored specifically for you. Currently, there are no FDA-approved medications for Nephrotic Syndrome diseases, but there are many potential treatments being tested in clinical trials. Some of these trials are based on precision medicine: Goldfinch Bio, Inc. is conducting a precision medicine clinical trial specifically for TRPC5-mediated FSGS. The Goldfinch Bio GFB-887 clinical trial uses urine biomarkers to help predict which patients may most likely respond to their clinical trial. Vertex Pharmaceuticals is conducting a precision medicine clinical trial specifically for APOL1-mediated FSGS. The Vertex VX-147 clinical trial uses genetic testing to help predict which patients may most likely respond to their clinical trial. Overall, the potential benefits of precision medicine spotlight the ongoing need for participation in clinical trials, to hopefully reduce the burden of kidney disease around the world. If you are interested in the promise of precision medicine and getting the best treatment options, visit Kidney Health Gateway to see if you are eligible to participate in a clinical trial near you. Interested in learning more about precision medicine? Click below to watch recordings of our NephCure U webinar series covering precision medicine. NephCure U: Understanding your Kidney Biopsy NephCure U: Improving Diagnosis with Biomarkers in Kidney Disease NephCure U: The Genetics of Rare Kidney Disease References 1. Precision medicine in nephrology. Nat Rev Nephrol 16, 615 (2020). https://doi.org/10.1038/s41581-020-00360-9 2. https://www.goldfinchbio.com/pipeline/gfb-887/ 3. https://www.vrtx.com/research-development/pipeline/apol1-mediated-kidney-diseases/
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 NephCure Volunteer Hub The NephCure Volunteer Hub is designed to be your central resource for all things related to volunteering with us. Here, you will find a wealth of information, resources, and opportunities to get involved. Whether you’re interested in fundraising, advocacy, patient support, or spreading awareness, there is a place for you in our volunteer community. Your commitment to our cause is greatly appreciated. EXPLORE THE HUB Voice of Patient Volunteers Voice of Patient Volunteers are storytellers, committed to sharing their journey, experiences, and opinions with constituents such as pharmaceutical companies, researchers, and even the FDA. Patient Support Volunteers Patient Support Volunteers offer support and share their experiences with other patients and families who are facing similar challenges associated with Nephrotic Syndrome or FSGS. Advocacy Volunteers Advocacy Volunteers take part in the NephCure Action Network to fight for lasting, legislative change that will help improve the lives of rare kidney disease patients and families. BECOME A VOLUNTEER
Newly Diagnosed? Learn About Nephrotic Syndrome in Children Nephrotic Syndrome is not a disease itself, but an umbrella term for the collection of symptoms that occur when the kidneys’ filters (called glomeruli) become injured and cause protein, and sometimes blood, to “leak” out of the bloodstream and into the urine. The term Nephrotic Syndrome covers a wide range of protein-spilling kidney diseases, such as: C1Q Nephropathy Congenital Nephrotic Syndrome C3 Glomerulopathy Focal Segmental Glomerulosclerosis (FSGS) IgA Nephropathy IgM Nephropathy Membranoproliferative Glomerulonephritis (MPGN) Membranous Nephropathy Minimal Change Disease (MCD) Other rare glomerular kidney diseases Nephrotic Syndrome can happen without a known cause, be genetic, or have environmental causes. Children with Nephrotic Syndrome have an 85% chance of outgrowing their condition. However, some diseases that cause Nephrotic Syndrome in children are chronic, and if the protein-spilling is not controlled, it can lead to permanent and irreversible kidney damage and ultimately, kidney failure. Symptoms of Nephrotic Syndrome in children may include: Swelling of the eyes, extremities, and abdomen (edema) High levels of protein in the urine (proteinuria) Sometimes, blood in the urine (hematuria) Low levels of albumin (protein) in the blood High blood pressure (hypertension) High cholesterol Active protein-spilling leads to kidney damage. The priority for every patient should be to stop or reduce protein in their urine. Most pediatric patients are prescribed Prednisone (a corticosteroid) for an initial 6-8 weeks upon diagnosis. Many patients will respond and will see a reduction in Nephrotic Syndrome symptoms within 4-8 weeks. If the patient does not respond to steroids, the doctor may recommend a biopsy to understand more specifically what is causing the protein-spilling. After a biopsy, a patient can usually be diagnosed more specifically, based on what is seen under the microscope. The most common cause of primary Nephrotic Syndrome in children is a condition called Minimal Change Disease (MCD) — almost 85% of children with Nephrotic Syndrome symptoms have MCD. Because of this, the term “Nephrotic Syndrome” is often used interchangeably with MCD in pediatric care. MCD usually does not cause permanent damage to the filters of the kidneys and the prognosis is generally good. Most patients, however, do experience relapses of protein in the urine. If the proteinuria is not controlled, MCD patients can develop FSGS. If your child has been diagnosed with Nephrotic Syndrome, FSGS, IgA Nephropathy, or a different protein-spilling kidney disease, NephCure is here for you. Follow these steps to get help and information. 01 Sign up with NephCure Once you register with us, you’ll receive information about your child’s diagnosis and potential treatment options. We’ll also contact you to see if you’d like to be connected to a peer support advocate who can help you navigate the disease journey. 02 Watch “Nephrotic Syndrome 101” Our short video on the basics of Nephrotic Syndrome will help you better understand what to expect with this diagnosis. 03 Find a Specialist Nephrotic Syndrome is a rare disease, so finding a kidney specialist (called a nephrologist) is important to obtaining the best care possible and reducing your child’s potential for kidney damage. Ready to learn more? You can find information about raising a child with Nephrotic Syndrome here, learn about your child’s treatment options, or join an upcoming online support group.
Newly Diagnosed? Learn About Nephrotic Syndrome in Adults Nephrotic Syndrome is not a disease itself, but an umbrella term for the collection of symptoms that occur when the kidneys’ filters (called glomeruli) become injured and cause protein, and sometimes blood, to “leak” out of the bloodstream and into the urine. The term Nephrotic Syndrome covers a wide range of protein-spilling kidney diseases, such as: C1Q Nephropathy C3 Glomerulopathy Focal Segmental Glomerulosclerosis (FSGS) IgA Nephropathy IgM Nephropathy Membranoproliferative Glomerulonephritis (MPGN) Membranous Nephropathy Minimal Change Disease Other rare glomerular kidney diseases Many adults who have been diagnosed with primary Nephrotic Syndrome or different protein-spilling kidney disease may have been experiencing symptoms for a long time without realizing it. Nephrotic Syndrome can happen without a known cause, be genetic, or have environmental causes. Many diseases that cause Nephrotic Syndrome are chronic, and if the protein-spilling is not controlled, it can lead to permanent and irreversible kidney damage and, ultimately, kidney failure. Symptoms of Nephrotic Syndrome in adults may include: Swelling of the eyes, extremities, and abdomen (edema) High levels of protein in the urine (proteinuria) Sometimes, blood in the urine (hematuria) Low levels of albumin (protein) in the blood High blood pressure (hypertension) High cholesterol Active protein-spilling leads to kidney damage. The priority for every patient should be to stop or reduce protein in their urine. To learn more about what is causing a patient to have Nephrotic Syndrome, doctors should perform a kidney biopsy. After a biopsy, a patient can usually be diagnosed more specifically, based on what can be seen under the microscope. The most common primary cause of Nephrotic Syndrome in adults is a disease called Focal Segmental Glomerulosclerosis (FSGS). If you have been diagnosed with Nephrotic Syndrome, FSGS, IgA Nephropathy, or a different protein-spilling kidney disease, NephCure is here for you. Follow these steps to get help and information. 01 Sign up with NephCure Once you register with us, you’ll receive information about your diagnosis and potential treatment options. We’ll also contact you to see if you’d like to be connected to a patient support volunteer who can help you navigate your disease journey. 02 Watch “Nephrotic Syndrome 101” Our short video on the basics of Nephrotic Syndrome will help you better understand what to expect with your diagnosis. 03 Find a Specialist Nephrotic Syndrome is a rare disease, so finding a kidney specialist (called a nephrologist) who routinely treats patients like you is important to obtaining the best care possible and reducing your potential for kidney damage. Ready to learn more about your disease? Visit our disease guides, learn about your treatment options, or join an upcoming virtual support group.
Our Mission NephCure’s mission is to empower people with rare, protein-spilling kidney disease to take charge of their health, while leading the revolution in research, new treatments, and care. 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 new treatments and more than 60 interventional drug trials for rare kidney disease. Unique among the major kidney organizations, NephCure is squarely focused on nephrotic syndrome, FSGS, IgAN, and other rare, protein-spilling kidney diseases. NephCure acts as the connector amongst patients and families, healthcare providers, government agencies, industry partners, and other key stakeholders, while also guiding patients to the best care and treatment options possible. NephCure is a U.S. tax exempt 501(c)(3) public charity established in 2000.
Virtual Support Groups We offer several virtual support groups curated for patients at different stages in their kidney disease journey. Hosted by a NephCure team member via Zoom, these virtual gatherings provide a safe space for patients to connect with and find support from others facing similar challenges. Visit our events page to register for upcoming support groups. NephCure Parent Support Group An informal time for parents of children who are living with rare kidney diseases to connect. This group meets on the third Monday of each month at 8 p.m. ET. NephCure Teen Support Group A monthly virtual support gathering just for teens, ages 13-17, who are living with rare kidney diseases. This group meets every fourth Monday of each month at 7:30 p.m. ET. NephCure Adult Support Group An informal time for adults who are living with rare kidney diseases to connect with one another. This group meets on the second Thursday of each month at 8 p.m. ET. Other Online Support Resources Facebook Groups Facebook Groups offer another way for patients and families to connect with one another. The below groups are not owned or moderated by NephCure. For Adult Patients FSGS Fight Club for Adults Minimal Change Disease, FSGS and Rare Kidney Disease in Adults IgA Nephropathy Membranous Nephropathy Talk C3G/DDD Warriors MPGN Support and Information For Patient Parents Parents of Children with Nephrotic Syndrome Nephrotic Syndrome Parent Support FSGS Fight Club for Parents of children with FSGS and NS IgA Nephropathy Membranous Nephropathy Talk C3G/DDD Warriors MPGN Support and Information Parents of Children with Congenital Nephrotic Syndrome
Aries Merritt’s Kidney Disease Journey Aries Merritt’s Kidney Disease Journey Aries Merritt, an Olympic Gold Medalist in hurdling, was diagnosed with a kidney disease called Focal Segmental Glomerulosclerosis (FSGS) in 2013. He went on to win bronze in the World Championship in Beijing, then flew home and received a kidney transplant just three days later. Watch Aries share his story below.