Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).

ABSTRACT: A 20-yr-old man with Proteus syndrome (PS) and somatic mosaicism of the AKT1 c.49G > A p.(E17K) variant had asymmetric overgrowth of the right frontal and facial bones, asymmetric spinal overgrowth with thoracolumbar scoliosis, dilatation of the inferior vena cava, testicular cystadenoma, bilateral knee deformities, macrodactyly, and apparent intellectual disability. Miransertib (ARQ 092) is an oral, allosteric, selective pan-AKT inhibitor initially developed for cancer therapeutics, now being evaluated for the treatment of PS. After baseline evaluation, the patient started unblinded treatment of 10 mg oral miransertib daily (∼5 mg/m²/day), escalated to 30 mg daily (∼15 mg/m²/day), and then to 50 mg daily (∼25 mg/m²/day) after 3 mo of treatment. Adve

SUBMITTER: Biesecker LG 

PROVIDER: S-EPMC6996520 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature