We address the huge unmet medical need for people living with a rare skin disease

There are approximately 600 known rare skin diseases or genetic disorders with skin manifestations

Our vision is to drive transformative changes in the most severe rare skin diseases where no cure or tailored for purpose treatment exists, and we aim to launch at least one medical product for treatment of a rare and severe skin disease before 2025 that will dramatically improve the lives of those affected.

Our approach to rare diseases

LEO Pharma takes a unique approach to addressing the unmet needs within rare skin diseases. Beyond doing commercial due diligence to match severe rare skin diseases to our existing competences within LEO Pharma, we also focus on pioneering dermatology research. We do this by building disease understanding of rare indications, identifying and exploring drug modalities that can deliver curative treatments, and establishing worldwide collaboration with relevant experts to explore pioneering modalities and transfer this knowledge to the organization.

However, where it all begins, and ends is with the patient and delivering a treatment that is either curative or helps to bring relief to the patient in the best possible way. Therefore, we have a strong focus on connecting with patients and patient organizations to engage in open dialogue and co-creative processes. We know, that only by having patients be an integral part of the development of medicine, we will understand what great looks like in terms of treatment, relief and support.

Current projects

Our commitment to contribute to change status quo in rare diseases started in 2018, when we entered into a partnership with the San Francisco-based biotech company PellePharm. At center of the partnership is what we all hope will be a first ever tailor-made treatment for people affected by Gorlin Syndrome – a rare genetic disorder - and related basal cell carcinomas (BCCs). The development of a topical gel to reduce the development of these BCCs is currently in phase 3. In addition, we are proof of concept-testing a molecule that we hope will change status quo for people affected by the autoimmune condition Discoid Lupus Erythematosus (DLE). The related development of a potential new treatment is currently in phase 2.

The science behind

Gorlin Syndrome

Gorlin Syndrome is known by several names, including Gorlin-Golts Syndrome, Basal Cell Nevus Syndrome (BCNS), and Nevoid Basal Cell Carcinoma Syndrome (NBCCS).

Gorlin Syndrome is a rare, genetic disease characterized by constitutional, heritable mutations in one allele of the tumour suppressor gene encoding PATCHED1 (PTCH1), which acts as the primary inhibitor of the hedgehog signalling pathway.

The syndrome affects several organs, including the skin, by increasing the risk of developing various cancerous and non-cancerous tumours. The most common cancer diagnose in affected people is basal cell carcinoma (BCC), a type of skin cancer, which often develops during adolescence or early adulthood. The skin cancer appears where the person afflicted has been exposed to sun, i.e. most often in the face. Those severely affected can experience up to 30 skin cancers in a year.

About High Frequency Basal Cell Carcinoma (BCC)

High Frequency BCC, like Gorlin Syndrome, is a rare disease which is characterized by the development of an abnormally high number of BCCs. Unlike patients with Gorlin Syndrome, patients with High Frequency BCC are not born with a germline PTCH1 mutation and do not suffer from the other systemic manifestations of Gorlin Syndrome. The standard of care for patients with High Frequency BCC is surgery.

About PellePharm

Founded by world leaders in hedgehog pathway signalling, PellePharm, a BridgeBio Company, is committed to targeting rare, genetic dermatological diseases, including Gorlin Syndrome and High Frequency Basal Cell Carcinoma (BCC), at their source. PellePharm’s mission is to improve the quality of life for those suffering from Gorlin Syndrome and High Frequency BCC by providing an easy-to-use topical gel that eliminates the need for regular, painful surgeries. 

If you or someone you know are affected by Gorlin Syndrome or DLE, please know that there is peer support to be found via the following patient organizations

Gorlin Syndrome Alliance 
Gorlin Syndrome Group 

Lupus Europe


Thorsten Thormann

Vice President
Research and development