Global Collaboration at PARASOL Project Enhances FSGS Clinical Trials and Hope of New Treatment Options December 13, 2023 by Hillary Kent On December 9, 2023, researchers, doctors, regulators, and patients from across the globe met in Washington, D.C. at the Proteinuria and GFR as Clinical Trial Endpoints in Focal Segmental Glomerulosclerosis (PARASOL) Project to discuss developing biostatistical models that could help with the design of clinical trials and aid subsequent regulatory approval of new treatments for FSGS. FSGS is a challenging disease to study because of the diverse patient population who experience different symptoms, response to treatments and rates of progression. Two important things doctors measure are protein in the urine (proteinuria) and kidney function (eGFR). But these can fluctuate a lot in FSGS. At this meeting, the group discussed how to account for this variability in their statistical models of disease course. PARASOL project attendees also considered what outcomes the models should predict, like kidney failure. Linking changes in proteinuria or GFR to these outcomes could help identify new treatments more quickly. “We recognize the urgent need for innovative additonal approaches to study FSGS. As we navigate the complexities of this challenging disease, the collaboration among global experts is key. By developing precise mathematical models, we aim to not only categorize patient groups more effectively, but also better predict outcomes like kidney failure. The entire PARASOL team is committed to providing regulatory agencies and drug companies data driven and feasible tools for better clinical trials and testing new FSGS therapies,” Josh Tarnoff, NephCure’s CEO, said. Participants agreed that to achieve these goals, they would need to bring together research datasets from all over the world to make sure that the models work for all patients with FSGS. By reviewing data, they hope to make decisions to start building initial models. Their models aim to provide a practical tool for drug companies to design clinical trials that could test new FSGS therapies and improve options for patients. The PARASOL project is sponsored by NephCure, International Society of Glomerular Diseases, National Kidney Foundation, and Kidney Health Initiative. There are plans for researchers and doctors to attend a follow up PARASOL project in June 2024, and to present project outcomes at the American Society of Nephrology project in late 2024. If you would like to get involved further with the PARASOL project, or have additional questions, please direct all inquires to info@nephcure.org.
Travere Therapeutics Announces Results from DUPLEX Study in FSGS May 2, 2023 by Kylie Karley KING OF PRUSSIA, Pa. (MAY 2, 2023) — Travere Therapeutics announced Monday results from their Phase 3 DUPLEX Study, which tests the drug sparsentan in focal segmental glomerulosclerosis (FSGS) patients. While the DUPLEX Study did not achieve its primary endpoint goal for eGFR, the results of its secondary endpoints provide encouragement. At the end of the 108-week long study, the eGFR total slope compared to the control drug, irbesartan, did not reach its goals to show statistical significance. However, the results also showed: An average of 50% reduction in proteinuria during the treatment. More than 2x greater remission rate — 18% of patients on sparsentan achieved complete remission, vs. only 7% on irbesartan. The results from the DUPLEX Study also indicated that sparsentan was well-tolerated, with a consistent safety profile comparable to irbesartan. Additionally, patients anecdotally reported a reduction in edema (more information on this to come as additional data is published). “FSGS is a particularly aggressive form of kidney disease that currently does not have any FDA-approved treatments. There is a high unmet need for treatment options for those affected by FSGS. Ensuring patients have choices about the medications they take is of the utmost importance,” said Josh Tarnoff, NephCure’s CEO. “NephCure has always stressed the significance of stopping the disease and reducing protein in the urine — and sparsentan is showing to do that based on these results.” According to Travere Therapeutics, the company will continue to explore a potential path forward with the FDA for a New Drug Application (NDA). To learn more about the DUPLEX Study results, read Travere’s press release here. To see a full list of clinical trials in the rare kidney disease space, visit KidneyHealthGateway.com.
Everything You Need to Know About TRACTION-2: Clinical Opportunity for FSGS and MCD Patients June 23, 2022 by Kylie Karley Goldfinch Bio is a biotechnology company based in Cambridge, MA which focuses on delivering disease-modifying precision medicines that bring hope and renewed quality of life to people living with kidney diseases. We recently spoke with Goldfinch Bio’s Chief Medical Officer, Ed Tucker, MD, who explains more about their Phase 2 clinical research trial for GFB-887, TRACTION-2, which is currently enrolling patients. Goldfinch Bio’s Chief Medical Officer, Ed Tucker, MD What patients are you hoping to enroll for this trial? In the TRACTION-2 study that is currently enrolling, we are looking for patients with focal segmental glomerulosclerosis (FSGS) and treatment resistant minimal change disease (TR-MCD) who are between the ages of 18 and 75 years old, have a UPCR greater than or equal to 1.0 g/g, and an eGFR greater than or equal to 30 mL/min/1.73 m2. Other inclusion and exclusion criteria will apply; please consult your healthcare provider for additional details. Why is FSGS and TR-MCD your target population? In the United States, there are currently no approved therapies for FSGS or MCD. Our treatment, GFB-887, was designed specifically for diseases like FSGS and TR-MCD because it targets and protects the podocytes that are damaged and lost in the disease development and progression. Other diseases involving podocyte injury/loss may be examined in the future as well. If someone enrolled in your Phase 2 study, what is the time commitment? After a patient has been evaluated (for up to 6 weeks) for eligibility in the study they will begin to receive the treatment and will continue for up to a total of 17 visits over approximately 26 weeks. Some of these visits are done via a phone call. After completion of the full study, patients will have the option to enroll in another “extension” study where they will continue to receive treatment for up to three years. An extension study is where all patients receive GFB-887 and allows for doctors to observe the effects of the therapy over a longer period of time. How many trial sites are there available? Where are these sites located? Currently, there are 76 locations throughout the United States where patients may participate in the study. Locations of these sites may be found here. What type of treatment is GFB-887? And what makes this treatment different from other ones being tested in clinical trials? GFB-887 is a tablet and is taken by mouth with water once a day. It differs from other medications in that it was created specifically to target and protect podocytes in the kidney to prevent damage and loss. No other therapies being tested for FSGS and TR-MCD work the same way that GFB-887 does on the kidneys. How is precision medicine integrated in this clinical trial? As this is a phase 2 trial, we are looking at different markers (including testing for genetic) for response to GFB-887, both before and after treatment has begun. Hopefully, we will be able to better integrate these findings into future studies and potentially improve outcomes for patients. Is there flexibility where lab samples can be collected for the participant? Is there an option for home care visits to collect these samples? Yes, patients have the flexibility to schedule follow-up visits within a few days before and after the expected date. Furthermore, if conditions outside the control of the patient change (Covid for example), or if the patient is unable to travel due to health limitations, the study site will work with the patient on scheduling and potentially offer telemedicine options for select visits. Additionally, your study site may be able to assist with travel services to and from office visits. What medicines can participants remain on while in the TRACTION-2 trial? Some medications, including calcineurin inhibiters (CNIs; cyclosporine for example), will need to be discontinued. Others, including angiotensin converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARB) should be continued, while various other drugs may be continued if on a stable dose. Please consult your healthcare provider for additional details. Does this trial have a placebo comparison? Yes. The placebo is used because comparing results in study participants who receive GFB-887 with results in participants who receive placebo is the best way to explore how well GFB-887 works and how safe it is. 66% of patients will receive GFB-887 (33% will receive placebo), but all patients will have the option to join an extension study where all patients will be offered GFB-887 for up to three years. What will happen to the results of this clinical trial? Can the participant stay on the medicine if it works? The results of this study will help guide the additional exploration of GFB-887 in these diseases and potentially others. It is one of many steps required before the FDA will approve a drug for broader availability. Currently, participants, once completing the initial study, have the option to participate in another “extension” study for up to three years. If a patient was taking placebo during the initial trial, they will receive GFB-887 in the “extension” study. Do you have plans for expanding into a pediatric trial? The current trial does not allow for patients under the age of 18, but we hope to offer additional options for younger patients in the future. Will the patients be paid for participating in the trial? Patients may be eligible to receive compensation for time and reasonable out-of-pocket expenses related to taking part in this trial. For more information, please talk to your trial doctor and trial staff. Goldfinch Bio’s TRACTION-2 clinical research trial is evaluating an investigational precision medicine, GFB-887, for the potential treatment of TRMCD and FSGS. 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.
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.
Do you have Focal Segmental Glomerulosclerosis (FSGS)? June 1, 2021 by Kylie Karley Have you or your loved one been diagnosed with FSGS? We have resources for you. The rates of severe kidney disease are high in individuals who are African American, Hispanic black, Afro-Caribbean, or of African ancestry. This could be due to differences in the genetic makeup in the APOL1 gene found typically in individuals with recent African, Caribbean, or Latin American descent. These differences in the genetic makeup are associated with increased rates of hypertension-associated kidney failure, FSGS, HIV-associated kidney disease, and other forms of nondiabetic kidney disease. Fast facts about APOL1 FSGS: Black Americans account for 32% of all kidney failure in the US Black Americans are four times more likely to develop kidney failure than White Americans Approximately 4 in 10 Black Americans on dialysis have kidney failure caused by APOL1 gene changes Approximately 1 in 5 people with two copies of the APOL1 gene changes will develop kidney disease The high-risk APOL1 genotype is present in 75% of Black patients with FSGS Below are resources we’ve complied that might be useful for you: This informational flyer on APOL1 FSGS breaks down the basics and helps you better understand this disease. To download the full informational sheet, click here. In June 2020, we hosted a NephCure U session specifically on APOL1-Associated FSGS. Dr. Jeffrey Kopp from the NIDDK lead, “Kidney Disease in Patients of African Descent: APOL1-Associated Disease” and discussed more on the diagnosis, treatment options, and clinical trials. Listen in on the hour-long educational webinar below. NephCure co-hosted a GlomCon Clinical Trial Conference Series session on Advances in APOL1 Therapeutics on February 14, 2021, featuring Dr. Ogo Egbuna, Dr. Opeyemi Olabisi, and Dr. David J. Friedman. Click here to watch the recording of this session. In addition to these resources, there are also clinical trials available for APOL1-Associated FSGS patients. Clinical trials look at the safety and effectiveness of potential new treatments. The main goals of clinical trials are to find new ways to prevent, detect (find) or treat diseases or health conditions, and to make sure potential new treatments or therapies work well and are safe for people. Check out some pre-screener questions below, provided by Vertex, to see if their clinical trial could be a fit for you or your loved one. Eligible participants must meet the following criteria: Be male or female adults between the ages of 18 and 65 (inclusive) Female participants must not be pregnant or breast-feeding Be of African, Caribbean or Latin American descent Have had a kidney biopsy which has found focal segmental glomerulosclerosis (FSGS) Have not had a diagnosis of kidney disease other than FSGS Be willing to complete the investigational apolipoprotein L1 (APOL1) gene test Be willing and able to follow the study instructions To learn more about Vertex’s clinical trial, click here. If you meet the preliminary criteria listed above, find the location closest to you and click the “I’m Interested” button to get in touch with an investigator for additional evaluation of eligibility. You can find a full list of clinical trials for all protein-spilling kidney diseases on KidneyHealthGateway.com.
NephCure Breaks Down Travere’s Interim FSGS DUPLEX Results February 11, 2021 by Kylie Karley NephCure’s Nurse Kristen Hood and Kylie Winkler discuss Travere’s Therapeutics achievement of interim proteinuria endpoint in the ongoing Phase 3 DUPLEX study of Sparsentan in Focal Segmental Glomerulosclerosis (FSGS). Learn more about the trial currently underway, why this is such a crucial step for patients with rare kidney diseases, and what potential treatments this could lead to in just a few short years! Read the full press release here.
Focal Segmental Glomerulosclerosis (FSGS) Focal Segmental Glomerulosclerosis (FSGS) FSGS is a rare disease that attacks the kidney’s filtering units (glomeruli) and causes serious scarring, leading to permanent kidney damage and even kidney failure. FSGS is one of the causes of a serious condition known as Nephrotic Syndrome. Overview and symptomsFocal Segmental Glomerulosclerosis (FSGS) is a rare kidney disease characterized by dysfunction in the part of the kidney that filters blood (the glomeruli). Only some glomeruli are affected, but continued damage can lead to kidney failure. Each kidney is made up of approximately one million tiny filters called “glomeruli.” Much like a coffee filter keeps coffee grounds in, glomeruli filter the blood, taking out the water-like part, which becomes urine, and leaving the protein in the blood. When glomeruli become damaged or scarred (sclerosis), proteins begin leaking into the urine (proteinuria). “Focal” refers to the fact that FSGS only leads to some of the glomeruli filters becoming scarred; “segmental” means that only some sections of those glomeruli become scarred. With FSGS, many individuals experience cycles of remission and relapse. Many people with FSGS experience no symptoms at all. When symptoms are present, the most common include: Swelling in parts of the body, most noticeable around the eyes, hands, feet, and abdomen (edema) Weight gain due to extra fluid building up in the body High blood pressure (hypertension) High fat levels in the blood (high cholesterol) Protein in the urine, which can be foamy (proteinuria) Low levels of protein in the blood (hypoalbuminemia) High levels of creatinine in the blood due to your kidneys not filtering properly. Find out more about your lab values here. How is FSGS diagnosed?To diagnose FSGS, doctors examine a tiny portion of the kidney tissue in a procedure called a biopsy. However, because FSGS only affects some sections of the glomeruli, biopsies can sometimes be inconclusive. Other diagnostic tools may include: Urinalysis: determines the amount of protein in the urine Blood work: determines levels of creatinine, albumin, cholesterol, and many other factors examined to rule out other causes Glomerular filtration rate (GFR): Your GFR estimates your kidney function by calculating blood creatinine levels with urine protein levels. Click here for a GFR calculator. Ultrasound: sometimes performed to get a closer look at the kidneys Who gets FSGS?In the U.S., approximately 40,000 people are living with FSGS, and more than 5,400 people are diagnosed with FSGS every year. This is considered an underestimate, however, because a limited number of biopsies are performed, and the number of FSGS cases are rising more than any other cause of Nephrotic Syndrome. FSGS is one of the leading causes of end-stage kidney disease (ESKD) in children, and is associated with up to 20% of all new cases of Nephrotic Syndrome in children each year. FSGS occurs more frequently in adults than in children and is most prevalent in adults aged 45 and older. Black Americans are at least four times more likely to get FSGS in comparison with white Americans. What causes FSGS?FSGS is not a single disease, but a pattern of glomerular injury. There are four main types of FSGS: Primary FSGS: FSGS with wide-spread damage to the kidneys' filters and accompanying nephrotic syndrome, often with a sudden onset. Primary FSGS means that the disease occurred on its own without a known or obvious reason. The exact cause of primary FSGS is unknown and not precisely understood. Genetic FSGS: FSGS with a known genetic cause. There are some known genetic causes of FSGS, and new gene variants are continually being discovered. Because of the genetic element, this type of FSGS tends to occur in families. APOL1 FSGS is a distinct form of genetic FSGS. It's caused by genetic variants in the APOL1 gene found only in individuals with recent African or Caribbean ancestry, and could explain why the rates of severe kidney disease are high in individuals of African and Caribbean descent. Secondary FSGS: FSGS caused by other diseases or conditions that occurred first, such as diabetes or hypertension. Other causes of secondary FSGS include: Kidney defects from birth (dysplasia) Urine backing up into kidneys (kidney reflux) Obesity Obstructive sleep apnea Viruses and blood disorders (such as HIV and sickle cell anemia) Autoimmune disorders (such as lupus and HSP) FSGS of undetermined cause (FSGS-UC): FSGS with dispersed damage to the kidneys' filters, no evidence of a secondary cause, and proteinuria without having nephrotic syndrome. How is FSGS treated?There are currently no FDA-approved medicines to treat FSGS. The standard first-line (initially prescribed) treatment for FSGS is prednisone, a corticosteroid aimed at decreasing proteinuria. The short-term goal of treatment is to stop protein spillage completely (known as remission) or lower the amount of protein lost in the urine as much as possible. The less protein lost in the urine, the better the patient will do. With FSGS, even partial remission is important. The long-term goals of treatment include preventing relapses of protein in the urine and preventing the deterioration of kidney function. Your nephrologist may also recommend: Medications that suppress your immune system Diuretics and a low-salt diet to help control edema A medication that blocks a hormone system called the renin angiotensin system (ACE inhibitor or ARB) to control blood pressure or lower urine protein Anticoagulants to prevent blood clots Statins to lower the cholesterol level Maintaining a healthy diet and regulating protein and fluid intake according to your nephrologist's recommendations. A healthy diet consists of low-sodium foods with an emphasis on fruits and vegetables that are low in saturated fat and cholesterol. Exercising Not smoking Taking vitamins Living with FSGS1. Following a low-sodium diet may help your kidneys’ function and improve your FSGS symptoms. 2. Finding a nephrologist that specializes in FSGS that you trust is very important to your long-term health. 3. Learn about your disease, treatment options, and clinical trials in order to better advocate for yourself. 4. NephCure Kidney International can help you connect with other patients and find support to manage your disease. Prognosis of FSGSIn the U.S., approximately 40,000 patients are living with FSGS, and more than 60% of patients do not have a durable response to current FSGS treatments. Because of this, 50% of patients with FSGS will progress to kidney failure. There are approximately 20,000 FSGS patients with end-stage kidney disease (ESKD), but only around 1,000 receive kidney transplants every year. Unfortunately, FSGS comes back to attack the new kidney 30-50% of the time. The future of FSGSThere are currently no FDA-approved medicine treatments for FSGS — but right now, the future looks more promising than ever before. There are at least 20 potential new medicines for Nephrotic Syndrome diseases in various phases of clinical trials. These clinical trials are absolutely essential in making new treatments possible, and they need patient involvement to succeed. That's why NephCure launched KidneyHealthGateway.com, an online platform that connects Nephrotic Syndrome patients with clinical trials in order to advance research and eventually find a cure for FSGS and other protein-spilling kidney diseases. Access breakthrough clinical trials, expert care, and one-on-one patient support all in one place — visit KidneyHealthGateway.com to find the clinical trial right for you. Interested in learning more about FSGS? Dr. Suneel Udani covers care options, clinical trials, and other research associated with FSGS and Minimal Change Disease in this webinar from the 2021 NephCure Patient Summit. DOWNLOAD THIS PAGE AS A PDF
FSGS is Now on WebMD January 25, 2021 by Kylie Karley A new educational resource is available for FSGS patients worldwide. We are proud to collaborate with WebMD/Medscape to make focal segmental glomerulosclerosis (FSGS) available as a program on the WebMD website. You can check out the brand-new information here. Within this program, you can test your FSGS knowledge, learn more about the causes of the rare protein-spilling kidney diseases, and find out about the treatment options that are available—including a deeper dive into clinical trials. This resource also includes a video from NephCure Board Member and NephCure Specialist, Dr. Kirk Campbell. He shares his expertise on the treatment options for those suffering from FSGS and breaks down the importance of enrolling in a clinical trial. We encourage you to take a look at this program on WebMD and share with family and friends to help shed light on you or your loved one’s medical condition. This program was supported by an independent educational grant from Travere Therapeutics. To learn even more about FSGS and treatment options, click here.
A Case for a Cure: Aishlyn’s FSGS Journey December 18, 2020 by Kylie Karley Aishlyn Case looks like any healthy 10-year-old, with a full face, long brown hair, and a big, beaming smile complemented by a dimple on each cheek. She acts like any healthy 10-year-old, swimming in the pool in her backyard, binge-watching her new favorite show, and attending virtual fifth grade, where her favorite subject (right now) is science. But Aishlyn Case is not any healthy 10-year-old. And most people would never be able to guess why. Tammy Case, Aishlyn’s mother, couldn’t guess why. No warning signs or strange symptoms made an appearance until she took Aishlyn and her two sisters shoe shopping in February, and Aishlyn couldn’t fit into a pair of shoes. It wasn’t because she simply needed a larger size — Aishlyn’s feet were swollen. After further inspection at home, Tammy realized the swelling went all the way up both of her daughter’s legs. They rushed to the emergency room, and later that day doctors recognized the severity of Aishlyn’s condition. Before they knew it, Tammy and Aishlyn were whisked away in an ambulance, heading straight for Le Bonheur’s Children’s Hospital in Memphis, Tennessee. “I immediately thought the worst, because her daddy passed away in October from cancer,” said Tammy, her Southern drawl tinged with a mother’s concern. But the swelling didn’t emanate from a cancer or tumor of any kind, or even an affliction most people are familiar with. In a hospital room at LeBonheur’s, Aishlyn’s blood test results pointed to Nephrotic Syndrome, a rare and chronic kidney disease. Tammy, like many others, had never even heard of this condition. Doctors assured her that Aishlyn likely had a form of Nephrotic Syndrome called Minimal Change Disease (MCD) and would quickly go into remission with the help of prednisone (steroids—a medication that suppresses the immune system). The doctors’ confidence in Aishlyn’s uncomplicated prognosis made Tammy feel that her family would simply have to hunker down and get through Aishlyn’s treatment, and then it would all be over. But the doctors’ confidence was misplaced. “I didn’t realize the longevity of it,” said Tammy of her initial reaction to Aishlyn’s February diagnosis of Nephrotic Syndrome. “I didn’t realize that this is a forever thing.” The prednisone didn’t work. After weeks of treatment without any sign of change in Aishlyn’s condition, doctors deemed Aishlyn steroid-resistant, a label placing her into yet another smaller, rarer, harder-to-treat subcategory of patients. In April, a kidney biopsy confirmed that an aggressive, rare kidney disease called focal segmental glomerulosclerosis (FSGS) was the culprit, not MCD. FSGS is the leading cause of kidney failure in children. To this day, 10 months after her symptoms first appeared at the shoe store, Aishlyn has not yet experienced relief from the symptoms that are causing harm to her kidneys. “I think I was pretty calm,” Aishlyn said, recounting her first thoughts after learning what disease she had. “But I was thinking in my mind, ‘this was bad.’” And then in March, just a month after Aishlyn’s diagnosis with a rare, immune-compromising disease, the COVID-19 pandemic halted the world. In the span of just six months, Tammy’s husband passed away from cancer, Aishlyn was diagnosed with a rare, incurable disease and hasn’t responded to treatments, and a pandemic — to which the immune-compromised are particularly vulnerable — swept the world. A series of events as difficult as these could quite possibly devastate a family. But the Cases refuse to submit to devastation. Quite the opposite, in fact — this family radiates gratitude and continues to find strength in their faith. “We prayed a whole lot, and I asked God, if He had to put her on this journey, that He would please be merciful,” said Tammy. “He has been, so we’re just very thankful.” The Cases are grateful for the chance COVID-19 provided to stay home and stay safe in the midst of Aishlyn’s new diagnosis. The Cases are grateful for Aishlyn’s relatively minor outward symptoms, even though remission continues to elude her. Physically, she appears healthy. The swelling has subsided and doesn’t continue to plague her as it does other FSGS patients. Since she’s stopped taking prednisone, the harsh side effects that accompany steroids have disappeared. But each of Aishlyn’s lab results show that she is still “spilling” protein from her blood into her urine, causing irreversible harm to her kidneys. Other than frequent fatigue and Tammy’s eagle-eye watch on her sodium intake, Aishlyn’s life mostly resembles that of any other fifth grader. Even though she may seem healthy, however, the knowledge that her protein-spilling has yet to stop hangs over the family each day. After Aishlyn’s diagnosis, Tammy scoured the internet for more information and support, and found both in NephCure Kidney International. “NephCure had the most information that was easily accessible,” Tammy said. “It was just the best by far for me to get information, so I was really thankful for that.” In July, just a few months after their new normal begun, the Cases participated in NephCure On the Move Summer Challenge — and ended up raising $2,545, the most of any participating team! “As a mama, I know that I can’t fix my baby,” Tammy said. “But what I can do, hopefully, is raise awareness and funds so that we can find a cure.” When Aishlyn was last admitted to LeBonheur’s, she said something to her nurse that’s stayed with Tammy ever since. Something that encapsulates the patience and faith that power the Cases through each challenge they face. “[Aishlyn] looked at that nurse,” Tammy recounts, “and she said, ‘Sometimes, God just puts you on a journey, but I’m going to be okay.’”
An Inside Look: Vertex’s Study in APOL1-FSGS July 29, 2020 by Kylie Karley We recently sat down with Dr. Ogo Egbuna, Vertex Pharmaceutical’s clinical development lead for their clinical trial in APOL1-mediated focal segmental glomerulosclerosis (FSGS) to learn a bit more about their program and why it’s exciting for the disease community. Dr. Egbuna is a board-certified nephrologist with a deep interest in FSGS and he provided some insight into the importance of the trial and what potential participants should know if they’re interested. Dr. Ogo Egbuna The purpose of the study discussed below is to evaluate the safety, tolerability and effectiveness of an investigational medication in individuals with APOL1-mediated FSGS. The word “investigational” means this medication is not approved for use by the Food and Drug Administration (FDA) in the United States or other regulatory agencies in the UK, Europe or elsewhere. How is this drug different than other treatments currently in use for FSGS? As many of you may know, there are many different causes of FSGS. At Vertex, we’re focused on FSGS mediated by variants of the APOL1 gene. With our investigational small molecule treatment, we are aiming to target the underlying cause of disease by inhibiting the APOL1 pathway. Why is a drug for APOL1-mediated FSGS needed? A key part of our strategy at Vertex is to work on diseases where there is a high unmet need for treatment. The current treatments do not address the underlying cause of disease. Let’s assume that you are able to successfully recruit participants in this study and the drug proves to be effective. What is an estimated or typical timeline for when we could see this drug available on the market? Drug discovery and development is a long process, but we’re working as quickly as possible to do the things needed to determine whether this potential therapy has an acceptable risk/benefit profile for patients and if so, we’ll work with regulators to bring it to people who need it as soon as possible. At Vertex, we focus on serious diseases where we can have a transformative impact for patients, not just an incremental benefit. Rather than looking for problems we can solve with only the tools we’ve used before, we figure out the problems that need to be solved for the diseases we’re going after and invent the tools to potentially fix them. Who is this study for? We are excited to work with and grow our relationships with the FSGS community. This study is for adults of African or Caribbean descent (ages 18-60) with two APOL1 gene variants and biopsy confirmed FSGS. For more information on this study, please visit FSGSResearchStudy.com Do I have to live near a study site to participate? We are committed to designing our trial to be as easy for participants as possible, and we have taken the participant considerations into account each step of the way. With that in mind, we’re excited to incorporate telemedicine and participant choice into our clinical trial process. You do not need to live near a study site to participate in the Vertex APOL1-mediated FSGS study. Only your first screening visit needs to be in person; after that, all visits can be done from home, at the study site or a combination of the two. It is your choice. For home visits, a home health company will provide a nurse to visit your home to collect information and perform required tests. You’ll be able to complete a telemedicine phone call or video visit with the study doctor, and the study drug can be shipped right to your home. For visits at the study site, Vertex provides travel assistance that will support costs and arrangements. How will I know if I have an APOL1 gene variant? As part of the Vertex APOL1-mediated FSGS study, you will be tested for APOL1 gene variants. What does it mean if I test positive for the APOL1 gene variant? This means you have a genetic variant that increases your risk of developing kidney disease and accelerates the progression of kidney disease. Can I be in remission from proteinuria and still participate in the study? Patients who are in remission are not eligible for this study. Can I be on dialysis? Patients currently on dialysis are not eligible for this study. If I need a biopsy to participate in this study, will my insurance cover it? Would Vertex cover it? The study is enrolling participants with a previously confirmed FSGS diagnosis. This article was developed in partnership with Vertex Pharmaceuticals.