World First–Drug to Treat Skin Lesions in Tuberous Sclerosis Complex Approved

Scientists at Osaka University in Japan have developed a new drug treating skin lesions in tuberous sclerosis complex (TSC), a rare intractable disease, a world first. Following the physician-led clinical studies I and II by Osaka University, and Phase III clinical trials by a pharmaceutical company, the drug was approved within 6 months of the drug application by the SAKIGAKE Designation System, an early approval system led by the Japanese government, on March 23, 2018 and was then commercialized. This drug is the first drug designated by the SAKIGAKE system. The details of physician-led clinical studies I and II were published in JAMA Dermatology on January 1, 2017. The open-access article is titled: “Efficacy and Safety of Topical Sirolimus Therapy for Facial Angiofibromas in the Tuberous Sclerosis Complex A Randomized Clinical Trial.” TSC is an inherited autosomal dominant disease caused by mutations in TSC1 (hamartin) and TSC2 (tuberin) genes. Mutations in the TSC1 and TSC2 tumor suppressor genes cause hyperactivation of the mTORC1 (mammalian target of rapamycin complex 1), developing neoplastic lesions called hamartomas in numerous organs, such as the brain, skin, kidneys, and lungs. The symptoms of TSC include epilepsy, learning disabilities, developmental delays, and autism spectrum disorder in addition to hamartoma. Of the various symptoms, skin problems, such as facial angiofibromas, develop in more than 90 percent of patients with TSC. Hemorrhage, secondary bacterial infection, pain, and functional disorder associated with lesions inflict suffering on patients, severely compromising their quality of life for cosmetic reasons.
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