Therapeutic Focus

Addressing the needs of rare skin diseases

Our focus lies on skin diseases that demand therapeutic innovation. By pushing the boundaries of medical dermatology, we strive to bridge the gap between existing treatments and the transformative solutions that patients with rare skin conditions deserve.

Gorlin syndrome

Gorlin syndrome, also known as nevoid basal cell carcinoma (BCC), is a rare genetic skin disorder that can affect nearly every organ system in the body.¹ People living with Gorlin syndrome are at increased risk of developing BCC skin cancers, which are the most common manifestation of the disorder. Gorlin syndrome affects an estimated 1 in 31,000 people.²

Gorlin syndrome causes debilitating symptoms, including cancerous growths, facial abnormalities, and potentially life-threatening complications, significantly impacting quality of life. Most patients with Gorlin syndrome will develop a few to many thousands of BCC lesions on their skin, with painful surgical excision and other invasive treatments being the only standard of care.¹ However, repeated surgical procedures lead to disfiguration and become impossible to continue. Preventing the development of new BCC lesions is critical for people with Gorlin syndrome.

High-frequency BCC

Severe high-frequency basal cell carcinoma (HF-BCC) is a non-syndromic condition in which individuals develop nine or more BCCs within a three-year period, without having Gorlin syndrome or other hereditary tumor syndromes. High-frequency BCC is also a rare disease; however, its prevalence is estimated to be at least ten times higher than that of Gorlin syndrome

Patients with severe HF-BCC may accumulate dozens of tumors over time, requiring repeated surgical or destructive procedures. These frequent interventions lead to scarring, functional and cosmetic impairment, and a cumulative treatment burden similar to that seen in syndromic BCC. A tertiary-center cohort showed that although only around 3 percent of BCC patients meet HF-BCC criteria, they generate a disproportionately large share of total BCC tumors, making prevention of new lesions a major clinical priority.

Insights in action

We’re committed to advancing a treatment that offers relief for patients with Gorlin syndrome—but our impact doesn’t stop there. We’ve partnered with the Gorlin Syndrome Alliance to support, educate, and empower patients and their loved ones as they navigate this condition.

References:

Gorlin Syndrome Alliance. About Gorlin syndrome. Accessed August 16, 2023. https://gorlinsyndrome.org/about-gorlin-syndrome/
Onodera S, Nakamura Y, Azuma T. Gorlin syndrome: recent advances in genetic testing and molecular and cellular biological research. Int J Mol Sci. 2020;21(20):7559. doi:10.3390/ijms21207559