Research for Rare - Research for rare diseases

Speed Translation-Oriented Progress to Treat FSGS (STOP-FSGS)
Idiopathic FSGS (focal segmental glomerulosclerosis) is a rare disease affecting an estimated 2,000 people in Germany and representing a major cause for irreversible loss of renal function and life-long need for dialysis. Building on recent advances in methodologies and insights into novel mechanisms of FSGS, the present consortium wants to address several key questions regarding the pathogenesis, diagnosis and novel therapies of FSGS. Two basic science subprojects will investigate novel concepts regarding the pathogenesis of FSGS in a zebrafish model: metabolic causes as potential novel trigger for FSGS and the cellular behaviour of injured podocytes by live imaging and pathway analysis. The consortium will test whether the histological diagnosis of FSGS can be improved using novel markers of parietal epithelial cells (PECs), which drive scarring in FSGS. Three novel therapeutic concepts will be investigated in preclinical studies. First, it will be tested whether first-line glucocorticoid treatment can be improved with fewer side effects antagonists to treat nephrotic range proteinuria. Second, it will be tested whether progression into irreversible loss of renal function can be slowed specifically. Finally, it will be tested whether the final pathway of progression is similar in secondary forms of FSGS, which are more prevalent. Rapid translation to clinic will be ascertained via three specialized outpatient clinics for FSGS patients in Aachen, Freiburg and Hannover.

Coordinating investigator:

Professor Dr. med. Marcus J. Moeller
RWTH University of Aachen,
Nephrology and Clinical Immunology
Pauwelsstrasse 30, D-52074 Aachen
Telephone 0241-8035204
Fax 0241-8082446