Studi clinici e programmi di accesso precoce in corso (ordine cronologico dalla data di attivazione)
Study Assessing the Efficacy, Safety and PK of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum (studio per valutare l’efficacia, la sicurezza e la farmacocinetica di alpelisib (BYL719) in pazienti pediatrici e adulti con malattie dello spettro PROS) (Ospedale Bambino Gesù e Ospedale Regina Margherita)
Study Evaluating the Safety and Efficacy of PTX-022 (QTORIN Sirolimus) in the Treatment of Microcystic Lymphatic Malformations (studio per valutare la sicurezza e l’efficacia di PTX-022 [rapamicina topica somministrata con la tecnologia QTORIN] nel trattamento delle malformazioni linfatiche macrocistiche (Stati Uniti) (settembre 2021)
First in Human Trial of Topical VT30 in Pts With Venous/Lymphatic Malformations Assoc With PIK3CA or TEK Gene Mutations (studio sulle malformazioni venose/linfatiche con farmaco topico) (Stati Uniti) (ottobre 2020)
Retrospective Chart Review Study of Patients With PIK3CA-Related Overgrowth Spectrum (PROS) Who Have Received Alpelisib as Part of a Compassionate Use Program (EPIK-P1) (studio retrospettivo delle cartelle cliniche di pazienti con malattie dello spettro PROS che hanno ricevuto alpelisib nell’ambito del programma di uso compassionevole (EPIK-P1) (giugno 2020)
Managed Access Program (MAP) to Provide Alpelisib (BYL719) for Patients With PIK3CA-Related Overgrowth Spectrum (PROS) (programma per l’accesso precoce a un medicinale orale non ancora approvato per i pazienti con PROS) (a livello internazionale) (settembre 2019)
An Open-Label, Phase 1/2 Study of Miransertib (ARQ 092), an Oral pan-AKT Inhibitor, in Patients with PIK3CA-Related Overgrowth Spectrum (PROS): Preliminary Results (studio registrativo di un medicinale orale per le PROS e la sindrome di Proteus) (internazionale, anche in Italia) (febbraio 2019)
Siti e articoli scientifici dedicati alle PROS (in ordine cronologico; i più significativi in grasetto)
A review of mechanisms of disease across PIK3CA‑related disorders with vascular manifestations (2021, Open access)
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement (luglio 2021, Open access)
Sito internet dedicato alle PROS (rivolto ai professioniti) (Novartis) (2020)
Sito internet dedicato alle PROS (rivolto ai pazienti) (Novartis) (2020)
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum (ottobre 2018, Open access)
Cancer-Associated PIK3CA Mutations in Overgrowth Disorders (ottobre 2018, Open access)
Mosaic Disorders and the Taxonomy of Human Disease (agosto 2018, Open access)
Targeted therapy in patients with PIK3CA-related overgrowth syndrome (giugno 2018, a pagamento)
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder (dicembre 2017, open access)
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing (febbraio 2017, Open access)
Somatic Overgrowth Disorders of the PI3K/AKT/mTOR Pathway & Therapeutic Strategies (Novembre 2016, Open access)
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation (maggio 2016, Open access)
Klippel–Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS) (agosto 2015, Open access)
PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation (febbraio 2015, Open access)
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA (febbraio 2015, Open access)
Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity (settembre 2014, a pagamento)
Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum (aprile 2014, Open access)
PIK3CA activating mutations in facial infiltrating lipomatosis (gennaio 2014, a pagamento)
PIK3CA-Related Overgrowth Spectrum (agosto 2013, Open access)
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly (febbraio 2013, Open access)
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA (giugno 2012, a pagamento)
Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome (giugno 2012, Open access)