Focal Segmental Glomerulosclerosis (FSGS) is a rare form of a nephrotic syndrome that affects both children and adults with peaks at 6-8 and 20-30 years of age, respectively. The life expectancy of a 10 year-old child on hemodialysis due to end stage kidney disease is dramatically reduced.
The cause of FSGS is unknown. The disease effects a specific part of the kidney called glomeruli. The role of the glomeruli is to filter soluble waste such as by-products of cellular metabolism from the blood, the first step to form urine. When barriers in this filter are damaged, proteins begin to leak into the urine and over time cause kidney failure. The diagnosis of FSGS is based on the presence of proteinuria, possibly signs and symptoms secondary to proteinuria (oedema), and histologic examination of kidney biopsy.
The disease burden is tremendous to patients with this lifelong chronic disease; particularly it requires management of dialysis and in some cases transplantation. Currently, there is unfortunately no cure for this debilitating disease.
As a private non-for-profit organisation, we strive to uncover the potential of existing molecules to address severe therapeutic unmet needs in rare diseases, thus giving better chances to existing drugs to reach these underserved patients.