Treatment options for Gorlin syndrome are often surgical, meaning that patients face possible scarring, loss of facial function and structure, and lowered quality of life. PellePharm aims to change treatment for this syndrome with their new topical gel. Patidegib Topical Gel 2% is meant to block the disease at its source. In a time where there is no FDA approved therapy for Gorlin syndrome, the work being done on this treatment is very important. PellePharm recently completed enrollment for the third phase of their study, and researchers are very excited for the results.
About Gorlin Syndrome
Gorlin syndrome is also known as nevoid basal cell carcinoma syndrome and increases the chance of developing both cancerous and noncancerous tumors. Basal cell carcinoma is the most common cancer to come from this syndrome, and it is also the most common form of skin cancer.
This condition is caused by a mutation in the PTCH1 gene, which makes a protein called patched-1. This protein is a receptor that blocks cell growth and division until the proper ligand is attached. As the PTCH1 gene is a tumor suppressor, mutations in it lead to the uncontrolled reproduction of cells that lead to tumors. A microdeletion on chromosome 9 may also lead to the symptoms seen in Gorlin syndrome. The deletion gets rid of the part of the chromosome that has the PTCH1 gene. Those with this deletion often experience symptoms that are unrelated to Gorlin syndrome, such as intellectual disabilities, delayed development, overgrowth of the body, and other physical abnormalities.
Symptoms of this syndrome are mainly the tumors, but the location, number, and type can vary greatly from person to person. People with Gorlin syndrome tend to develop basal cell carcinomas during adolescence or early adulthood. While the most common areas for tumors to grow are the face, back, and chest, all areas of the bodies are susceptible to tumor growth. The number of cancerous tumors that grow during a lifetime are also dependent on the person with this condition. Some may have thousands while others may never develop any at all. Another common symptom of this condition is noncancerous tumors along the jaw called keratocystic odontogenic tumors, which tend to appear during childhood and continue to appear until age 30. Without treatment they can cause the face to swell and displace teeth. While the most common tumor is basal cell carcinoma, other types of cancer may form. Medulloblastoma, which is a brain tumor, and fibroma which develops in the heart or ovaries are both common. Pits in the palms of hands and soles of feet may also appear, along with large heads and prominent foreheads. Skeletal abnormalities of the skull, ribs, and spine may also occur.
This condition is inherited in an autosomal dominant pattern, and in some cases mutations can occur without being inherited from a parent. While one copy of this mutated gene is enough to cause the symptoms like skeletal abnormalities and large heads, two copies of the gene must be present in order for tumors to develop. Those born with one copy tend to acquire a second mutation over their lifetime.
There is no cure for Gorlin syndrome. Surgery is often an option to treat tumors, but some are inoperable.
About Patidegib Topical Gel 2%
Patidegib Topical Gel 2% is an investigational therapy that blocks the disease through the hedgehog signalling pathway. It is a topical gel that is meant to be applied to the face twice a day. It was developed from an oral form of the drug, and it was created with the hope of bringing no adverse effects. The gel can be stored at room temperature for two years, making it ideal for at home treatment. It has also received the orphan drug designation and breakthrough therapy designation from the FDA.
About PellePharm’s Study
PellePharm has recently filled the enrollment for the third phase of their study of the topical gel. They enrolled 16% more patients than they originally planned for, as patients from the prior phases met requirements and had “incredible interest.” Phase 3 is randomized, vehicle-controlled, and double-blind, and it is meant to evaluate the safety and efficacy of the gel.
PellePharm has spoken of their excitement for this clinical trial and their hopes of further developing this gel. They hope that this treatment will change and better the lives of those with Gorlin syndrome.
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