Journal of Genetic Syndromes & Gene Therapy
Open Access

Abstract

Ciliotherapy–New Opportunity for Targeted Therapy in Autosomal Dominant Polycystic Kidney Disease.

Katarína Skalická and László Kovács

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disease which affects nearly 12 million people in the world. Despite the intensive development of new treatment options, hemodialysis and renal replacement therapy remain the only effective treatment of the end-stage disease. However, recently there has been a significant progress in understanding the molecular pathogenesis of the disease, including the discovery of the role of the primary cilium. Recent studies have unequivocally confirmed that the change in the length of the primary cilium is an important trigger of pathological processes that results in the development and progression of ADPKD. The resumption of the primary cilium length by pharmacological regulation can stop cystic growth, prevent fibrosis, and improve kidney function. These results have opened a new era in the development of targeted drugs, so-called ciliotherapy. Early pre-clinical testing of new potential agents has brought promising results. However, there are many challenges in drug development and design of clinical trials in ADPKD, which must be overcome. This review summarized the state of knowledge about the key aspects of the primary cilium in pathogenesis of ADPKD and introduces the latest information on novel compounds that have a great potential in suppressing the development and progression of the disease.