Robles, Nicolás RobertoPeces, RamónGómez-Ferrer, ÁlvaroVillacampa, FelipeÁlvarez-Ossorio, Jose LuisPérez-Segura, PedroMorote, JuanHerrera-Imbroda, BernardoNieto, JavierCarballido, JoaquínAnido, UrbanoValero, MarianMeseguer, CristinaTorra, Roser2023-01-252023-01-252016-09-26http://hdl.handle.net/10668/10476Renal angiomyolipomas (AML) are usual manifestations of tuberous sclerosis complex (TSC) that may cause aneurism-related haemorrhages and renal impairment. Everolimus has emerged as an alternative to surgery/embolization. We provide further insight into everolimus safety and efficacy for TSC-related AML. This was a Spanish expanded access trial including patients aged ≥18 years with TSC-related AML. They received 10 mg everolimus once daily until AML progression, unacceptable toxicity, death/withdrawal, commercialisation for TSC-related AML, or 1 year after first patient enrolment. The primary outcome was dose-limiting safety according to grade 3/4 adverse events, serious adverse events, or adverse events leading to treatment modification. Secondary outcomes included overall safety and efficacy. Nineteen patients were enrolled and received everolimus for a median of 6.6 (5.3-10.9) months. Eleven (57.9 %) remained on 10 mg/day throughout the study and eight (42.1 %) required treatment modifications due to adverse events; none permanently discontinued treatment. Adverse events were overall grade 1/2 and most frequently included aphthous stomatitis/mucosal inflammation, hypercholesterolaemia/hypertriglyceridaemia, urinary tract infection, hypertension, dermatitis acneiform, and insomnia. Four (21.1 %) patients experienced grade 3 adverse events, none was grade 4, and only one (5.3 %) was serious (pneumonia). AML volume was reduced ≥30 % in 11 (57.9 %) patients and ≥50 % in 9 (47.4 %); none progressed. Right and left kidney sizes decreased in 16 and 14 patients, respectively. These findings support the benefit of everolimus for renal AML due to a manageable safety profile accompanied by reduced AML and kidney volumes. EudraCT number 2012-005397-63 ; date of registration 22 Nov 2012.enAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/AngiomyolipomaEverolimusSafetyTuberous sclerosis complexresearch article27669821open access10.1186/s13023-016-0517-91750-1172PMC5037621https://doi.org/10.1186/s13023-016-0517-9https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037621/pdf