TUBEROUS SCLEROSIS COMPLEX

Our Focus

Tuberous Sclerosis Complex (TSC)

Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder stemming from unregulated activation of the mammalian target of rapamycin (mTOR) pathway, resulting in the growth of hamartomas in multiple organs. More than 90% of patients with TSC have one or more skin lesions, which usually develop early in life and can be disfiguring, emotionally distressful, painful and lead to benign growths that can bleed and obstruct the nasal passages.

Of these skin lesions, Facial Angiofibromas (FAs) are the most visually apparent, occurring in approximately 75-80% of patients. FAs are usually pink to red-brown papulo-nodules with a smooth, glistening surface and are typically distributed symmetrically on the face. FAs start small and gradually increase in size, with their growth being augmented by puberty. There are about 40,000 people living with FAs from TSC in the U.S., and about 800,000 globally.

The range of potential treatment options for symptomatic or disfiguring TSC-associated skin lesions includes non-pharmacological (surgical excision, laser therapy) and pharmacological (e.g., topical or systemic mTOR inhibitors) alternatives. Surgical options for treating FAs in TSC may be painful, costly and have inconsistent efficacy.

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