Topical sirolimus for angiofibroma in tuberous sclerosis complex

Topical sirolimus is in clinical development for tuberous sclerosis complex (TSC). TSC is a rare genetic multisystem disorder that is typically apparent shortly after birth. TSC is caused by a mutation (change to genetic material) in one of two different genes (TSC1 or TSC2). Small bumps or red spots, known as angiofibroma, may appear between the ages of 3 and 5 years, primarily on the face. Angiofibromas are benign proliferations that can cause significant disfigurement and bleeding without an effective treatment. Current treatments for angiofibroma are invasive, such as surgery or laser treatment, which are difficult to administer to young children or patients with developmental disabilities. These treatments, can also cause relapse, change of pigment, scar and risk of infection.
Topical sirolimus is an immunosuppressant. It inhibits the activity of mTOR (mammalian target of rapamycin), where overactivation of mTOR promotes angiogenesis. Topical treatment means that sirolimus is applied to the skin and is therefore less invasive. If licenced, topical sirolimus will offer as an additional treatment option for patients with angiofibroma due to TSC.