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Drugs. 2016 Apr;76(5):551-65. doi: 10.1007/s40265-016-0552-9.

The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions.

Author information

1
Department of Neurosciences, Child Neurology and Psychiatry Unit, Tor Vergata University Hospital of Rome, Rome, Italy. curatolo@uniroma2.it.
2
National Center for Rare Epilepsy-related Disorders, National Center of Epilepsy, Oslo University Hospital, Oslo, Norway.
3
Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital Basel, University of Basel, Basel, Switzerland.
4
INSERM Unité 1511, Paris, France.
5
Neuro Pediatra, Centro Hospitalar Lisboa Ocidental, Hospital São Francisco Xavier, Lisbon, Portugal.
6
Department of Paediatrics, University Hospital Vienna, Vienna, Austria.
7
Diagnose und Behandlungszentrum für Kinder und Jugendliche, Vivantes Klinikum Neukölln, Berlin, Germany.
8
Pediatric Neurology Unit-UZ Brussel, Brussels, Belgium.
9
Department of Child Neurology, Medical University of Warsaw, Warsaw, Poland.
10
Sussex Renal Unit, Royal Sussex County Hospital, Brighton, UK.
11
The Trafford Department of Renal Medicine, Royal Sussex County Hospital, Brighton, UK.
12
Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
13
Servei de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
14
Department of Neurosciences, Child Neurology and Psychiatry Unit, Tor Vergata University Hospital of Rome, Rome, Italy.
15
Pediatric Neurology Unit, Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
16
Department of Pediatric Neurology, Reference Centre for Rare Epilepsies and Tuberous Sclerosis Complex, Necker-Enfants Malades Hospital, University Paris Descartes, Paris, France.
17
University Medical Center Utrecht, Utrecht, The Netherlands.

Abstract

Tuberous sclerosis complex (TSC) is a genetic disorder arising from mutations in the TSC1 or TSC2 genes. The resulting over-activation of the mammalian target of rapamycin (mTOR) signalling pathway leaves patients with TSC susceptible to the growth of non-malignant tumours in multiple organs. Previously, surgery was the main therapeutic option for TSC. However, pharmacological therapy with mTOR inhibitors such as everolimus and sirolimus is now emerging as an alternate approach. Everolimus and sirolimus have already been shown to be effective in treating subependymal giant cell astrocytoma (SEGA) and renal angiomyolipoma (AML), and everolimus is currently being evaluated in treating TSC-related epilepsy. In November 2013 a group of European experts convened to discuss the current options and practical considerations for treating various manifestations of TSC. This article provides evidence-based recommendations for the treatment of SEGA, TSC-related epilepsy and renal AML, with a focus on where mTOR inhibitor therapy may be considered alongside other treatment options. Safety considerations regarding mTOR inhibitor therapy are also reviewed. With evidence of beneficial effects in neurological and non-neurological TSC manifestations, mTOR inhibitors may represent a systemic treatment for TSC.

PMID:
26927950
DOI:
10.1007/s40265-016-0552-9
[Indexed for MEDLINE]

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