A Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in
LESSONS LEARNED: This is the first human interventional study in patients with Cowden syndrome that is driven by inactivation of germline
BACKGROUND: Cowden syndrome is characterized by inactivating germline
METHODS: Adult subjects with germline
RESULTS: A total of 18 patients and 16 families were enrolled.
CONCLUSION: A 56-day course of sirolimus was well tolerated in subjects with Cowden syndrome and was associated with some evidence of improvement in symptoms, skin and GI lesions, cerebellar function, and decreased mTOR signaling.
Komiya, Takefumi MD; Blumenthal, Gideon M; DeChowdhury, Roopa; Fioravanti, Susan; Ballas, Marc S; Morris, John; Hornyak, Thomas J; Wank, Stephen; Hewitt, Stephen M; Morrow, Betsy; Memmott, Regan M; Rajan, Arun; and Dennis, Phillip A, "A Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in" (2019). PCI Publications and Projects. 37.