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.

With no FDA-approved drugs available for Gorlin Syndrome, also known as Basal Cell Carcinoma Nevus Syndrome (BCCNS), the standard of care is surgery. People with severe Gorlin Syndrome may have as many as 30 surgeries per year, which can be repetitive and scarring. Approximately 10,000 people in the United States, or one in 31,000, are believed to be affected by Gorlin Syndrome. Gorlin Syndrome is known by several names, including BCCNS, Gorlin-Goltz Syndrome, Basal Cell Nevus Syndrome, or Nevoid Basal Cell Carcinoma Syndrome.

Nicola Cadenas, MS, LCGC - genetic counselor, University of California San Francisco, presents "The Genetics of Gorlin Syndrome"

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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.

Topical patidegib gel has shown early promise in a phase 2 clinical study for the mitigation of the BCC tumors in Gorlin Syndrome, with topline data announced in 2017. Topline data from a United States-based phase 2 clinical trial of topical patidegib for sporadic BCCs will be released in early 2018.

PellePharm plans to initiate a phase 3 trial of topical patidegib in 2018.