Jean Tang, MD, PhD is co-founder of PellePharm and serves on the PellePharm board of directors. She is a practicing dermatologist and associate professor of dermatology at Stanford University. In this video, Dr. Tang discusses Gorlin Syndrome, a rare, genetic, disease characterized by mutations in the tumor suppressor gene encoding Patched1 (PTCH1), which acts as the primary inhibitor of the hedgehog signaling pathway. This leads to hundreds of basal cell carcinomas, especially on the face and sun-exposed areas. Patients suffering from Gorlin Syndrome and BCCs have a genetic mutation in the tumor suppressor gene encoding Patched1 (PTCH1), which acts as the primary inhibitor of the hedgehog signaling pathway.
Patidegib was developed to work by turning off the hedgehog signaling pathway. It is intended to chemically enhances a naturally occurring hedgehog pathway inhibitor by blocking the Smoothened signal, which allows cells to function normally and stop the overproduction of tumors found in patients with Gorlin Syndrome and BCCs.
Because oral formulations for this treatment typically have serious systemic side effects which cause many patients to discontinue treatment, patidegib is formulated as a topical gel to reduce its side effect profile due to its minimal systemic exposure.