FSGS, or Focal Segmental Glomerulosclerosis (FSGS), is a form of RKD that occurs more frequently in our community, more intentional research and patient education within the Black community. We spoke with Keisha L. Gibson, MD MPH FASN, is a Professor of Pediatrics at University of North Carolina, as well as the Senior Vice Chair of Clinical Affairs in the Department of Pediatrics and Chief of Pediatric Nephrology at the UNC Kidney Center about the condition and promising research on the horizon.
FSGS in Simple Terms
“I often explain to families that FSGS simply describes an injury pattern we see on biopsy. We often need additional information to understand what has caused this scarring injury, she explains.
“I relate it to seeing skid marks in the road. You know that something has happened in that area, but you don’t immediately know if it’s a truck, a car, what kind of car, etc. that has caused it.”
What Caused the Condition?
FSGS cannot necessarily be traced to a singular root cause. Dr. Gibson that a critical step is identifying what is causing the scarring. “Once we identify a patient has FSGS on biopsy, we then want to know is this because of a genetic defect, the sequelae of ‘overworked’ kidney filters (glomeruli),” the nephrologist posts out.
“Or because you were born prematurely before developing all the glomeruli you need, the result of some abnormal protein your immune system is producing to attack the kidney, or a myriad of other causes.”.
“What has been exciting over the last few years is that the understanding of the biology of this disease is rapidly expanding and we can better identify (not in all but in a growing number) of patients what may be causing their FSGS,” Dr. Gibson continues.
“And we can develop treatments that directly address the underlying cause rather than non-specifically slow the progression of irreversible scarring in the kidney.”
Where Are We with Available Therapies?
While there are not currently any FDA-approved treatments for FSGS, the disease is being treated in other ways.
“Current treatments are geared either towards those that suppress the immune system and those that non-specifically slow the progression of irreversible scarring. With these treatments, about 40-60% of patients with FSGS still progress to end stage kidney failure,” Dr. Gibson says.
How Can Clinical Trials Help?
According to Dr. Gibson, there is a robust pipeline of therapies currently in clinical trials. “Many of the treatments in clinical trials are therapies directed specifically to the underlying cause of a patient’s FSGS,” she says. “One exciting example includes at least three ongoing clinical trials for patients with FSGS driven by APOL1 high risk mutations. Others may prove more effective in slowing disease progression compared to what’s available now.”
Why Patients Should Consider Participating in Clinical Trials
Clinical Trial is our vehicle to producing and approving new and more effective treatments for all diseases and conditions, and RKD is no exception to this method. Dr. Gibson believes they are crucial in discovering better treatments and therapies. Participation in these trials may provide access to cutting edge treatments years before it’s available to the general public.
“Clinical trials for rare diseases like FSGS provide one of the most important pathways for us to figure out new and better treatments for a disease that currently has no cure and limited options. In essence, these trials are necessary for us to figure out which treatments in which patients and at what time is best—true precision medicine,” she says.
Recent Advancements Show Major Steps Forward for Patients
In the most recent years, some of the biggest leaps forward have been made for patients. Advancements in testing and diagnosis, better understanding of the various causes of FSGS, and better industry collaborations are accelerating progress towards improved patient treatment and care. Dr. Gibson is witnessing this growth firsthand.
“Truly it’s the advances making genetic testing more efficient, cost-effective and accessible, a growing understanding of the molecular underpinnings of different causes of FSGS, and the strengthening collaboration between academic clinical researchers, pharmaceutical industries, patient organizations, and the FDA,” she says.
Advice from the Expert for Patients: Be Proactive, Get Diagnosed Early
The most important thing is for these patients to get diagnosed early. “This is as simple as starting with urine studies to assess for abnormal protein spillage (proteinuria). They should also have their blood pressure checked annually,” Dr. Gibson points out.
“If either of these are abnormal or you know you have a family history of kidney disease or risk factors for kidney disease like diabetes, history of prematurity, among others, you should also have routine blood work to check your kidney function (eGFR).”
If you have proteinuria or an abnormal eGFR, you should be referred to a nephrologist. “If your nephrologist tells you that you have FSGS and they believe it was caused by hypertension, you need to ask more questions, “Dr. Gibson says, “Make sure they have offered genetic studies to look for APOL1 status in addition to other causes for proteinuric kidney disease.”
