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.

Externally led patient-focused drug development (EL-PFDD) meetings bring together patients and care partners, US Food and Drug Administration (FDA) representatives, pharmaceutical companies, and doctors who are experts in the particular disease to discuss the path toward new treatment options. These meetings serve as a platform for patients who have the disease to make their voices heard and provide the FDA and pharmaceutical companies insight into the patient experience.

This year, NephCure Kidney International and the National Kidney Foundation are coming together to conduct an EL-PFDD meeting on August 27, 2021, to inform these key groups about the patient perspective of living with membranous nephropathy (MN). The meeting will be held online. We invite anyone who has MN, lives with someone affected by it, or is interested in it to attend this critical meeting. 

This year’s EL-PFDD meeting on MN will be co-chaired by Drs. Laurence Beck and J. Ashley Jefferson. Read on to hear from them about the importance of patient attendance at this EL-PFDD meeting.

As a patient with membranous nephropathy, why should I consider attending this meeting?

Dr. Jefferson: MN is a rare disease, but one that has a major impact on those who suffer from it. Although nephrologists taking care of MN patients understand the effects of this disease, many of the people designing and evaluating the results of clinical trials and testing new medications haven’t met anyone with MN and may not recognize the issues that patients face each day.

This meeting is your chance to explain not only the impact of the disease, but also the limitations of our current therapies. Each patient’s experience is unique, so hearing from as many different people as possible is incredibly helpful.

We encourage you to share what you would like to see from new treatments for MN in terms of how they are administered, how long the medication must be taken, the side effects, or anything else you think would be relevant to the development of new treatments.

The EL-PFDD meeting is a unique setting where patients, clinicians, scientists, industry leaders, and regulators are all gathered together to listen. Therefore, your attendance and insight vital is vital.

How does this meeting contribute to putting new medications for membranous nephropathy on the pharmacy shelf?

Dr. Beck: All new medications must go through a rigorous process to make sure they work effectively to treat the disease in the safest manner possible before these new therapies can be used by your doctors. This process involves clinical trials, often designed by the pharmaceutical company, and ultimate approval by the FDA if the medication shows success in the clinical trial.

By sharing your views on which factors are most important to you as a patient, both the pharmaceutical companies and the FDA can make sure to focus on these factors when designing and running the clinical trial and when evaluating the results of the trial for the medication’s final approval for use in treating MN.

Why does the FDA want to hear from patients?

Dr. Beck: It’s important for both the FDA and the companies making these medications to understand from you, the patient, what it’s like to live with MN, what the most troubling symptoms are, what side effects or inconveniences you’ve had from prior therapies, and what you would like to see in terms of future treatments for this condition. There are many factors that the FDA considers when deciding whether or not to approve a medication for clinical use, and patient-reported outcomes are becoming increasingly important in this decision-making process.

As a doctor, why do you believe the EL-PFDD is important?

Dr. Jefferson: This is an exciting time in the management of MN. We’ve made major advances in the science underlying this disease in the last 10-15 years, and we now have a much better understanding of what causes MN in many patients. The key now is to translate this knowledge into the most effective treatments with the fewest side effects.

To do this, we need the help of patients at an early stage in the design of clinical studies to help us understand what is and isn’t acceptable in a study and study medication, and make sure the approval process for new treatments includes the perspective of people living with the disease. In my clinic, I want to see new, evidence-based, effective, and safe treatments become available to treat my patients and alleviate the burden that this disease places on patients and their families.

Dr. Beck: As a physician who treats this rare disease, the EL-PFDD gives me the opportunity to hear directly from you, the patient, about your experiences with the disease and its therapy, as well as your goals and hopes for different, better, and safer therapies.

I’ve been interested in MN since I became a kidney specialist and have learned a lot from patients like you. There have been a number of exciting advances in the past few years, but it’s also clear we need to keep thinking hard and creatively about this disease and how to develop novel and more effective ways to safely treat it, keep it from causing further kidney damage, and prevent it from coming back once treated. Doctors, researchers, pharmaceutical companies, and the FDA highly value your input about these matters and your willingness to help us move forward together to meet these common goals.

 

 

Written by Linda Lujan.

This year, my confidence and health were greatly challenged as I faced the reality of learning that I developed a serious, potentially life-threatening disease and tested positive for COVID-19 in the same ER visit. Though I did not receive my diagnosis of Minimal Change Disease until June 24, 2020, my journey started many months prior.

That’s where I’ll start my story of “Welcome to 2020.”

After a flight to Texas during the week of Christmas 2019, I noticed my ankles were swollen. I thought it was due to the long flight, and I tried to relieve the swelling by elevating my legs and wearing compression socks during my weeklong stay, which helped relieve the swelling to some degree. Upon my return to Oregon, the swelling eventually resolved.

As 2020 began, I was off to a great start. I was healthy and training for a half-marathon, my nutrition was on point, I was not taking any medication, and I had no underlying health conditions.

Things began to change just a few weeks later.

From mid-January through early March, I started gaining weight for no apparent reason. I gained a pound or so a week and couldn’t figure out why. In late February, I noticed that my legs were swollen. I started paying more attention, and though the swelling wasn’t improving, instead of thinking I had a medical issue, I thought it was related to my exercise routine. At this point, I was cycling 100+ miles every week!

In mid to late March, my weight was still climbing a pound at a time, and the swelling in my legs was still prevalent. I saw my family doctor, who also thought it was related to my exercise and prescribed a diuretic. A week later there was no change, so I returned to the doctor. After seeing my albumin level in my lab results, he asked me to increase my protein intake by 20%. Within a week the swelling in my legs mostly resolved, but then my abdomen started swelling.

On March 30, after a long weekend of considerable discomfort in my stomach from extreme swelling and now severe fatigue, I once again went to see my doctor. He wanted a CT scan of my belly, but because insurance was going to take three to five days to approve it, he sent me to the emergency room.

There, a scan was taken of my abdomen and lungs. The ER doctor indicated that he believed I had Nephrotic Syndrome and had consulted with a nephrologist in Portland who asked that I be transferred to a hospital there.

But there was one problem! The scan of my lungs revealed what was described as glass shards, which the doctor believed was an indicator I was positive for COVID-19. The doctor in Portland began working on getting me into a hospital — but special conditions were needed for my admission because he believed I was positive for COVID-19.

I was transported by ambulance to Meridian Park Hospital in Portland. Upon arrival, I was taken straight to a room, bypassing what I assume would be normal procedure for a transfer. It felt a bit chaotic and I was definitely scared. My husband wasn’t allowed to be with me and would not be allowed to come see me.

I was in a lot of pain, and I was processing a lot of information: what it meant to have COVID, and what in the heck Nephrotic Syndrome even was. It was a surreal and terrifying experience.

After getting settled into a room, I was put on a diuretic through IV. By the next day, I was feeling much better with respect to the pressure in my abdomen. That morning, the doctor confirmed my Nephrotic Syndrome diagnosis.

He said I needed a kidney biopsy to determine what specific kidney disease I had, and he also wanted an ultrasound; however, the hospital declined both orders due to coronavirus restrictions. A 24-hour urine catch was ordered, which revealed a high level of protein. The COVID-19 test came back that day as well — with a positive result.

I was in the hospital for four days in a particular area that was set aside for COVID patients. At that time, there were eight patients suspected of having the virus, but I was the only confirmed positive case. What should have been a routine hospital stay (if there is such a thing) was complicated by my COVID diagnosis. I later learned from my doctor that, because he believed I had contracted COVID before it was confirmed, he fought for extreme measures for my care in addition to the coronavirus protocol the hospital already had in place.

The safety protocols he asked to be implemented for my care included only one hospital doctor assigned to me, one nurse per shift allowed in my room, and meals delivered only as far as the door. Everything that came in my room was disposable, and nothing left my room. The extreme end of this caution was that during the 24-hour urine catch, I was asked to measure the urine, transfer it to a larger bag on ice, and document the measurements. I was way too sick to be managing such a task.

Upon discharge from the hospital, my nephrologist informed me that I would not be able to get the biopsy until I tested negative for COVID, and, once he knew my diagnosis, treatment would not begin until I had a second consecutive negative test. Unfortunately, over the next seven weeks, I continued to test positive.

The time period between my discharge from the hospital with a general diagnosis of Nephrotic Syndrome and starting treatment for it was about 12 weeks. It was a long 12 weeks!

Emotionally, I was scared to death because I didn’t know what was wrong with me. The only thing I could do during that time was to research Nephrotic Syndrome — because that’s all I knew was wrong with me.

It was very scary to not know my specific kidney disease diagnosis. Every positive COVID test added another level of disappointment, as it further delayed a diagnosis and treatment.

This time period was stressful and emotionally challenging. I faced the reality that I had a kidney disease, but that I didn’t yet know which disease, how much damage (if any) my kidneys had suffered, and what long-term effects could result. I was concerned things would get worse as I continued to wait for a negative COVID-19 test.

I finally tested negative and was able to get my biopsy in early June. On June 24, I received a diagnosis of Minimal Change Disease and started treatment of 60 mg of prednisone. My first lab results four weeks from that date revealed I was in remission, so I started to quickly taper off the prednisone.

After I was released from the hospital, the nurse at the kidney center kept telling me that my doctor was fascinated by my case. I asked the PA about this, and he told me the doctor believed I had contracted COVID in late fall 2019 and that it had started attacking my kidneys when the first swelling presented in late December — causing my Minimal Change Disease.

Furthermore, the doctor believed I was one of the first cases of such a diagnosis to be caused by COVID-19, and therefore a case for medical journals. At my diagnosis appointment, he told me he’d discussed my case with peers worldwide, and they were all of the belief that I was the first case in the U.S. to have had the coronavirus lead to Nephrotic Syndrome without having any underlying conditions. At the time of the kidney biopsy, my doctor asked the pathologist for an analysis for COVID to give insight to this theory, but the pathologist could not confirm it.

My doctor told me that if he was right about COVID-19 causing my MCD, I would be in remission quickly, and that I would most likely have little chance of relapse. He was right. I’ve been in remission since the four-week mark, and I’m praying for no relapse.

During the same appointment, he told me he was participating in a COVID/kidney case study and that he was presenting my case for it; that case study has since been published.

Throughout this whirlwind year, NephCure has been amazing. When I received the initial diagnosis, I researched Nephrotic Syndrome a million and one ways. I kept changing my search words and finally came across NephCure’s Facebook group.

I posted that I had a Nephrotic Syndrome diagnosis but had to wait on a biopsy because of COVID-19; a patient advocate for NephCure replied to my post and we talked on the phone a few days later. She gave me so much information and put me in contact with Kelly Helm, NephCure’s assistant director of patient advocacy.

I then learned about the bi-monthly peer-to-peer video calls and started participating in them — I learned so much from the other participants on those calls, as well as from Nurse Kristen! One participant reached out to me via private message and gave me so much helpful information.

Kelly kept in contact with me, and was also very supportive and responsive to my questions and/or concerns. I truly appreciated the support group and Facebook page, and the opportunity NephCure gave me to hear from people who shared similar challenges.

Today, I am healthy, medicine-free, and have been back to my regular exercise routine since early September! I pray every day I stay in remission.

While the past few months have brought a great deal of confusion, pain, and discomfort to the entire world, we understand the thirst for information is just as prevalent now as it was at the start of the COVID-19 pandemic.

As new research is coming out and guidelines are seemingly changing every day, NephCure is here to help you and other patients with protein-spilling kidney diseases navigate the unknown. We continue to advise you to consult with your physician to design your own protection plan, as every patient’s situation is unique.

No matter your age, if you have chronic kidney disease at any stage or have received an organ transplant, the CDC has clearly outlined and our NephCure Specialists agree that you are at an increased risk for complications from the COVID-19 virus.

We recognize that while your physical health is important, your mental, social, and financial health are also a priority. We encourage you to talk to your doctor, family, and support system to devise a plan you feel comfortable with as you decide when and how to re-enter society.

In the words of Dr. Anthony Fauci, “If it looks like you’re overreacting, you’re probably doing the right thing.” Ultimately, until a vaccine is found, we urge you to follow all precautionary steps recommended by the CDC to decrease your chance of getting COVID-19 infection.

We are in regular communication with our NephCure Specialists to help find the answers you need. We will keep you updated as we receive new information in the coming weeks and months.

As you develop your protection plan, here are some key points to remember:

• Consult with your personal nephrologist and family to create a plan that is right for you.

• Review the most current guidelines from the CDC.

• Your risk may vary depending on the community spread within your region. Search for your county using this map and check with your local health department for information relevant to your location.

This statement was prepared with input from NephCure Specialists:

Ambarish Athavale, MBBS, MD
Lawrence Holzman, MD
Elaine Kamil, MD
Ali Poyan Mehr, MD