Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature

Bevacqua, Martina; Baldo, Francesco; Pastore, Serena; Valencic, Erica; Tommasini, Alberto; Maestro, Alessandra; Rabusin, Marco; Arbo, Anna; Barbi, Egidio

doi:10.1007/s40272-019-00337-7

Cited by 41 publications

(30 citation statements)

References 37 publications

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“…In children, several studies have highlighted the efficacy and safety of everolimus in pediatric pathologies 6‐10 . Its use in KMS is novel and promising.…”

Section: Figurementioning

confidence: 99%

Tufted angioma with Kasabach‐Merritt syndrome: Two cases successfully treated with everolimus

Chiguer

Farid

Amal

et al. 2020

Pediatric Blood & Cancer

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“…In children, several studies have highlighted the efficacy and safety of everolimus in pediatric pathologies 6‐10 . Its use in KMS is novel and promising.…”

Section: Figurementioning

confidence: 99%

Tufted angioma with Kasabach‐Merritt syndrome: Two cases successfully treated with everolimus

Chiguer

Farid

Amal

et al. 2020

Pediatric Blood & Cancer

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“…1 This genetic disorder leads to the growth of hamartomas in multiple organs, such as the skin, central nervous system, angiofibromas, renal angiomyolipoma and cardiac rhabdomyomas. 2 Recent studies estimate a frequency of 1/6000-1/10,000 live births and a population prevalence of around 1/20,000. 3 Cardiac rhabdomyoma is the most common primary cardiac paediatric tumour and is a major criterion of tuberous sclerosis.…”

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confidence: 99%

“…4 Cardiac rhabdomyomas represents up to 90% of cardiac tumours in the paediatric population before the age of 1 year, 5 and it is associated with TSC in 60-80% of the cases. 2 Most patients with cardiac rhabdomyoma and TSC are asymptomatic, and cardiac rhabdomyomas slowly and spontaneously regress in the first 2 years of life in half of the cases, but some patients become symptomatic and need treatment. Symptoms include arrhythmias, intracardiac blood flow obstruction and congestive heart failure depending on the tumour size, number, and location.…”

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confidence: 99%

“…Symptoms include arrhythmias, intracardiac blood flow obstruction and congestive heart failure depending on the tumour size, number, and location. 2,5 Heart failure is the most common cause of death in patients aged less than 10 years having TSC. 2 Current standard of therapy for symptomatic patients is supportive care (diuretics, intravenous (iv) inotropic drugs, antiarrhythmic).…”

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confidence: 99%

“…2,5 Heart failure is the most common cause of death in patients aged less than 10 years having TSC. 2 Current standard of therapy for symptomatic patients is supportive care (diuretics, intravenous (iv) inotropic drugs, antiarrhythmic). Surgery is indicated in severe cases, for large tumours that generate obstruction to the outflow tracts of the great arteries or for arrhythmias of very difficult medical management (generated by infiltration of the tumour and compromising the nervous conduction).…”

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confidence: 99%

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Everolimus for cardiac rhabdomyomas in children with tuberous sclerosis. The ORACLE study protocol (everOlimus for caRdiac rhAbdomyomas in tuberous sCLErosis): a randomised, multicentre, placebo-controlled, double-blind phase II trial

Stelmaszewski

Parente

Farina³

et al. 2020

Cardiol Young

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Introduction:Tuberous sclerosis complex is a rare genetic disorder leading to the growth of hamartomas in multiple organs, including cardiac rhabdomyomas. Children with symptomatic cardiac rhabdomyoma require frequent admissions to intensive care units, have major complications, namely, arrhythmias, cardiac outflow tract obstruction and heart failure, affecting the quality of life and taking on high healthcare cost. Currently, there is no standard pharmacological treatment for this condition, and the management includes a conservative approach and supportive care. Everolimus has shown positive effects on subependymal giant cell astrocytomas, renal angiomyolipoma and refractory seizures associated with tuberous sclerosis complex. However, evidence supporting efficacy in symptomatic cardiac rhabdomyoma is limited to case reports. The ORACLE trial is the first randomised clinical trial assessing the efficacy of everolimus as a specific therapy for symptomatic cardiac rhabdomyoma.Methods:ORACLE is a phase II, prospective, randomised, placebo-controlled, double-blind, multicentre protocol trial. A total of 40 children with symptomatic cardiac rhabdomyoma secondary to tuberous sclerosis complex will be randomised to receive oral everolimus or placebo for 3 months. The primary outcome is 50% or more reduction in the tumour size related to baseline. As secondary outcomes we include the presence of arrhythmias, pericardial effusion, intracardiac obstruction, adverse events, progression of tumour reduction and effect on heart failure.Conclusions:ORACLE protocol addresses a relevant unmet need in children with tuberous sclerosis complex and cardiac rhabdomyoma. The results of the trial will potentially support the first evidence-based therapy for this condition.

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Neoadjuvant Everolimus for Adult Giant Mesenteric Cystic Lymphangioma with mTOR Pathway Activation

et al. 2021

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Cystic lymphangioma are rare benign vascular or lymphatic tumors, diagnosed mostly in newborns or children, that may become life-threatening because of local invasiveness. Surgical "en-bloc" resection with negative margins is the only curative treatment, but some patients are diagnosed with unresectable tumors. We describe the case of a young adult with giant unresectable mesenteric lymphangioma. Extensive pathological characterization as well as whole exome and transcriptome sequencing enabled us to identify

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Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature

Cited by 41 publications

References 37 publications

Tufted angioma with Kasabach‐Merritt syndrome: Two cases successfully treated with everolimus

Tufted angioma with Kasabach‐Merritt syndrome: Two cases successfully treated with everolimus

Everolimus for cardiac rhabdomyomas in children with tuberous sclerosis. The ORACLE study protocol (everOlimus for caRdiac rhAbdomyomas in tuberous sCLErosis): a randomised, multicentre, placebo-controlled, double-blind phase II trial

Neoadjuvant Everolimus for Adult Giant Mesenteric Cystic Lymphangioma with mTOR Pathway Activation

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