- Kurt Herpel
- April 27, 2022
Focal Segmental Glomerulosclerosis (FSGS) is a devastating clinical condition with defined glomerular histopathology and yet a multifaceted pathophysiological, histological, and genetic background. FSGS patients often progress to end-stage renal disease requiring dialysis and/or kidney transplantation, adding a significant socioeconomic burden to the individual burden of patients. There are approximately 140.000 patients with FSGS worldwide, qualifying it as an orphan disease.
Currently, there are no broadly effective therapies for glomerular disorders. Therefore, there is an urgent need to find new treatment options and test their efficacy in suitable trials.
Delta4’s Clinical Study
Delta4 is a drug discovery and development company, combining in-silico drug discovery and big data analysis with extensive expertise in molecular biology and bioinformatics to a powerful proprietary drug discovery platform. This platform is being used both for tailored service collaborations as well as for the discovery of promising drug leads backed by a strong mechanistic hypothesis, typically resulting in a fast track for clinical development.
Delta4 has chosen FSGS as its first therapeutic area to establish a clinical proof-of-concept of validated compounds. The significant medical and biological competence of its team in the renal field assembles all expertise to address this devastating disorder with high and unmet medical needs. Therefore, our FSGS project has successfully advanced from identifying candidate compounds to the clinical proof-of-concept stage.
Preparations are now underway for an innovative clinical trial with the aim to include the first patients in the fall of 2022.
Delta4 is working closely with leading experts from medical universities and the Austrian Society of Nephrology, to optimize study design and to prepare a nationwide platform to provide the fastest pathway for the best benefits both to patients and shareholders.
We are looking forward to disclosing more details of this effort over the next few months.
Background
What is Focal Segmental Glomerulosclerosis (FSGS)?
Focal Segmental Glomerulosclerosis (FSGS) is a kidney disease that affects the glomeruli, the tiny filtering units within the kidneys responsible for filtering waste and excess fluids from the blood to form urine. In FSGS, some of the glomeruli become scarred, or sclerotic, leading to a reduced filtering capacity. The term “focal” refers to the fact that only some glomeruli are affected, while “segmental” means that only a portion of each affected glomerulus is damaged.
The exact cause of FSGS is not fully understood, but it can be classified into two types:
- Primary FSGS: This type occurs when the cause of the disease is unknown, or idiopathic. It is believed to involve a combination of genetic, immune system, and environmental factors.
- Secondary FSGS: This type is caused by an underlying condition or factor, such as obesity, drug toxicity, viral infections (like HIV), or other kidney diseases.
FSGS can lead to a progressive loss of kidney function, eventually resulting in kidney failure or end-stage renal disease (ESRD), which requires dialysis or a kidney transplant for survival. Symptoms of FSGS can include swelling (edema), high blood pressure, foamy urine due to proteinuria (excess protein in the urine), and poor kidney function as evidenced by blood tests.
Treatment for FSGS often involves medications to control blood pressure, reduce proteinuria, and suppress the immune system, as well as dietary and lifestyle modifications. The specific treatment plan depends on the underlying cause, the severity of the disease, and the individual patient’s needs.
Who is affected by Focal Segmental Glomerulosclerosis (FSGS)?
Focal Segmental Glomerulosclerosis (FSGS) can affect people of any age, gender, and ethnicity. However, certain factors can make some individuals more susceptible to the disease. These include:
- Age: Although FSGS can occur at any age, it is more commonly diagnosed in children and young adults. However, it can still affect middle-aged and older adults as well.
- Race: Studies have shown that FSGS is more prevalent in individuals of African descent compared to other ethnicities. This increased risk is partly attributed to genetic factors.
- Gender: Males are more likely to be affected by FSGS than females. The reason for this gender difference is not well understood.
- Genetic factors: Some forms of FSGS have a genetic component, making individuals with a family history of the disease more susceptible. Mutations in specific genes, such as NPHS1, NPHS2, and ACTN4, have been associated with hereditary FSGS.
- Underlying conditions: People with certain health conditions, such as HIV infection, obesity, and drug toxicity, are at a higher risk of developing secondary FSGS. Moreover, individuals with other kidney diseases or disorders may also be more susceptible to FSGS.
It is essential to note that FSGS can affect anyone, even those without any apparent risk factors. Early diagnosis and appropriate treatment are crucial for managing the disease and preserving kidney function.
How Does FSGS Impact Quality of Life?
Focal Segmental Glomerulosclerosis (FSGS) can significantly impact the quality of life for those affected by the disease. The effects can vary depending on the severity of the condition and the stage of the disease. Some factors that may influence the quality of life for individuals with FSGS include:
- Physical symptoms: Swelling (edema), high blood pressure, and proteinuria (foamy urine) can cause discomfort and affect daily activities. Fatigue, weakness, and loss of appetite can also make it difficult for individuals to maintain a normal routine.
- Emotional well-being: The chronic nature of FSGS and its potential to lead to kidney failure may cause stress, anxiety, and depression. The uncertainty of the disease’s progression and the possibility of needing dialysis or a kidney transplant can be emotionally challenging.
- Treatment side effects: Medications used to treat FSGS, such as corticosteroids and immunosuppressive drugs, can cause side effects like weight gain, mood swings, increased susceptibility to infections, and other complications. These side effects can further impact quality of life.
- Dietary and lifestyle restrictions: Individuals with FSGS may need to follow a strict diet low in sodium, protein, and potassium to help manage symptoms and protect kidney function. This may limit food choices and affect social activities centered around meals. Additionally, maintaining a healthy lifestyle by exercising regularly, managing stress, and quitting smoking can be challenging but essential for overall health.
- Financial burden: The cost of medications, dialysis, kidney transplants, and ongoing medical care can create a significant financial burden for individuals with FSGS and their families. This can lead to additional stress and anxiety.
- Social support: The impact of FSGS on daily life can affect relationships with family and friends. It is essential for individuals with FSGS to have a strong support system to help them cope with the physical and emotional challenges of the disease.
It is crucial for individuals with FSGS to work closely with their healthcare team to manage their condition effectively and maintain the best possible quality of life. Support groups and counseling may also help with coping strategies and emotional well-being.