ALLMedicine™ Proteus Syndrome Center

Aug 8th, 2022 - Study Description: The primary objective of this study is to determine the response rate of miransertib as measured by the change in CCTN involvement of the plantar surface from baseline, using blinded independent central review of lesional photog...

Aug 4th, 2022 - The purpose of this project is to specifically delineate the phenotype and natural history and genetic etiology of Proteus syndrome (PS) and other overgrowth disorders hypothesized to be in the PI3K/AKT pathway. As we have recently determined the ...

Aug 1st, 2022 - This is a study of the safety and tolerability of oral miransertib (MK-7075) administered to participants at least 2 years of age with phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum (PRO...

Jul 16th, 2022 - Limited information is available regarding cystic lung disease in Proteus syndrome, a rare overgrowth disorder caused by a somatic activating variant in AKT1. To define the phenotype of cystic lung disease in Proteus syndrome. Medical records, pul...

Jun 30th, 2022 - Proteus syndrome is a rare segmental overgrowth disorder caused by a somatic gain of function mutation, c.49GA, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase . The disorder is progressive, with high morbidity and mortality - there are...

Aug 8th, 2022 - Study Description: The primary objective of this study is to determine the response rate of miransertib as measured by the change in CCTN involvement of the plantar surface from baseline, using blinded independent central review of lesional photog...

Aug 4th, 2022 - The purpose of this project is to specifically delineate the phenotype and natural history and genetic etiology of Proteus syndrome (PS) and other overgrowth disorders hypothesized to be in the PI3K/AKT pathway. As we have recently determined the ...

Aug 1st, 2022 - This is a study of the safety and tolerability of oral miransertib (MK-7075) administered to participants at least 2 years of age with phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum (PRO...

Jun 30th, 2022 - Proteus syndrome is a rare segmental overgrowth disorder caused by a somatic gain of function mutation, c.49GA, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase . The disorder is progressive, with high morbidity and mortality - there are...

May 16th, 2022 - The study consists of two parts: Part A and Part B. Part A was closed to enrollment under Amendment 6. As of Amendment 7, the endpoints for Part A and Part B have been combined to assess the safety and tolerability of miransertib in participants w...

Apr 17th, 2020 - To the Editor: A 3-year-old boy with a history of tuberous sclerosis presented to our clinic for evaluation of bumps on the second and third fingers of the left hand. Physical examination revealed firm rubbery nodules on the palmar third metacarpo.

May 8th, 2019 - To the Editor: An 85-year-old woman presented with extra growth of subcutaneous fat at the left anterior infradiaphragm that expanded circumferentially to the left back over the last 4 years. Two years prior to the current presentation, the left t.

May 8th, 2019 - To the Editor: An 85-year-old woman presented with extra growth of subcutaneous fat at the left anterior infradiaphragm that expanded circumferentially to the left back over the last 4 years. Two years prior to the current presentation, the left t.

Sep 9th, 2018 - LAKE TAHOE, CALIF. – Mosaicism makes everything in genetics more challenging, but it also enables researchers to understand how genes and cell pathways work in cancer and during human development, Leslie G.

Oct 18th, 2016 - To the Editor: A 12-year-old girl presented with discomfort and walking limitation caused by cutaneous masses on the plantar aspects of the feet with associated bone abnormalities that had started as several flesh-colored papules on the plantar su.