Long-term use of mTORC1 inhibitors in tuberous sclerosis complex associated neurological aspects

References

• Curatolo P. Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy. Pediatr Neurol. 2015 Mar;52(3):281–289.
   PubMed Web of Science ®Google Scholar
• Northrup H, Krueger DA. International tuberous sclerosis complex consensus G. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol. 2013 Oct;49(4):243–254.
   PubMed Web of Science ®Google Scholar
• Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet. 2008 Aug 23; 372(9639):657–668.
   PubMed Web of Science ®Google Scholar
• Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol. 2015 Jul;14(7):733–745.
   PubMed Web of Science ®Google Scholar
• Peters JM, Sahin M, Vogel-Farley VK, et al. Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex. Acad Radiol. 2012 Jan;19(1):17–25.
   PubMed Web of Science ®Google Scholar
• Garaci FG, Floris R, Bozzao A, et al. Increased brain apparent diffusion coefficient in tuberous sclerosis. Radiology. 2004 Aug;232(2):461–465.
   PubMed Web of Science ®Google Scholar
• Moavero R, Napolitano A, Cusmai R, et al. White matter disruption is associated with persistent seizures in tuberous sclerosis complex. Epilepsy Behav. 2016;60:63–67.
   PubMed Web of Science ®Google Scholar
• Rakowski SK, Winterkorn EB, Paul E, et al. Renal manifestations of tuberous sclerosis complex: incidence, prognosis, and predictive factors. Kidney Int. 2006 Nov;70(10):1777–1782.
   PubMed Web of Science ®Google Scholar
• Moavero R, Romagnoli G, Graziola F, et al. Mammalian target of rapamycin inhibitors and life-threatening conditions in tuberous sclerosis complex. Semin Pediatr Neurol. 2015 Dec;22(4):282–294.
   PubMed Web of Science ®Google Scholar
• Pullicino P, Curatolo P, Brinchi V. Antenatal diagnosis of tuberous sclerosis. Lancet. 1993 Jan 16;341(8838):176–177.
   PubMedGoogle Scholar
• Costello LC, Hartman TE, Ryu JH. High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex. Mayo Clin Proc. 2000 Jun;75(6):591–594.
   PubMed Web of Science ®Google Scholar
• Jozwiak S, Schwartz RA, Janniger CK, et al. Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol. 2000 Oct;15(10):652–659.
   PubMed Web of Science ®Google Scholar
• Cusmai R, Moavero R, Bombardieri R, et al. Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis. Epilepsy Behav. 2011 Dec;22(4):735–739.
   PubMed Web of Science ®Google Scholar
• Moavero R, Benvenuto A, Emberti Gialloreti L, et al. Early clinical predictors of autism spectrum disorder in infants with tuberous sclerosis complex: results from the EPISTOP study. J Clin Med. 2019 Jun;3(6):8.
   Google Scholar
• Prabowo AS, Anink JJ, Lammens M, et al. Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. Brain Pathol. 2013 Jan;23(1):45–59.
   PubMed Web of Science ®Google Scholar
• Curatolo P, Moavero R, van Scheppingen J, et al. mTOR dysregulation and tuberous sclerosis-related epilepsy. Expert Rev Neurother. 2018;18(3):185–201.
   PubMed Web of Science ®Google Scholar
• French JA, Lawson JA, Yapici Z, et al. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 2016 Oct 29;388(10056):2153–2163.
   PubMed Web of Science ®Google Scholar
• Franz DN, Belousova E, Sparagana S, et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet. 2013 Jan 12;381(9861):125–132.
   PubMed Web of Science ®Google Scholar
• Bissler JJ, Kingswood JC, Radzikowska E, et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet. 2013 Mar 09;381(9869):817–824.
   PubMed Web of Science ®Google Scholar
• MacKeigan JP, Krueger DA. Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex. Neuro Oncol. 2015 Dec;17(12):1550–1559.
   PubMed Web of Science ®Google Scholar
• Bissler JJ, McCormack FX, Young LR, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med. 2008 Jan 10;358(2):140–151.
   PubMed Web of Science ®Google Scholar
• Overwater IE, Rietman AB, Bindels-de Heus K, et al. Sirolimus for epilepsy in children with tuberous sclerosis complex: A randomized controlled trial. Neurology. 2016 Sep 06;87(10):1011–1018.
   PubMedGoogle Scholar
• Davies DM, Johnson SR, Tattersfield AE, et al. Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis. N Engl J Med. 2008 Jan 10;358(2):200–203.
   PubMed Web of Science ®Google Scholar
• Koenig MK, Butler IJ, Northrup H. Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex. J Child Neurol. 2008 Oct;23(10):1238–1239.
   PubMed Web of Science ®Google Scholar
• Birca A, Mercier C, Major P. Rapamycin as an alternative to surgical treatment of subependymal giant cell astrocytomas in a patient with tuberous sclerosis complex. J Neurosurg Pediatr. 2010 Oct;6(4):381–384.
   PubMed Web of Science ®Google Scholar
• Franz DN, Leonard J, Tudor C, et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol. 2006 Mar;59(3):490–498.
   PubMed Web of Science ®Google Scholar
• Franz DN, Agricola K, Mays M, et al. Everolimus for subependymal giant cell astrocytoma: 5-year final analysis. Ann Neurol. 2015 Dec;78(6):929–938.
   PubMed Web of Science ®Google Scholar
• Bialer M, Johannessen SI, Levy RH, et al. Progress report on new antiepileptic drugs: A summary of the thirteenth eilat conference on new antiepileptic drugs and devices (EILAT XIII). Epilepsia. 2017 Feb;58(2):181–221.
   PubMed Web of Science ®Google Scholar
• Ebrahimi-Fakhari D, Agricola KD, Tudor C, et al. Cannabidiol elevates mechanistic target of rapamycin inhibitor levels in patients with tuberous sclerosis complex. Pediatr Neurol. 2020;105:59–61.
   PubMed Web of Science ®Google Scholar
• Wiemer-Kruel A, Stiller B, Bast T. Cannabidiol interacts significantly with everolimus-report of a patient with tuberous sclerosis complex. Neuropediatrics. 2019 Dec;50(6):400–403.
   PubMed Web of Science ®Google Scholar
• Jozwiak S, Nabbout R, Curatolo P, et al. Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur J Paediatr Neurol. 2013 Jul;17(4):348–352.
   PubMed Web of Science ®Google Scholar
• Kingswood JC, d’Augeres GB, Belousova E, et al. TuberOus sclerosis registry to increase disease awareness (TOSCA) - baseline data on 2093 patients. Orphanet J Rare Dis. 2017 Jan 5;12(1):2.
   PubMedGoogle Scholar
• Franz DN, Belousova E, Sparagana S, et al. Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study. Lancet Oncol. 2014 Dec;15(13):1513–1520.
   PubMed Web of Science ®Google Scholar
• Franz DN, Belousova E, Sparagana S, et al. Long-term use of everolimus in patients with tuberous sclerosis complex: final results from the EXIST-1 study. PLoS One. 2016;11(6):e0158476.
   PubMed Web of Science ®Google Scholar
• Jiang T, Du J, Raynald, et al. Presurgical administration of mTOR inhibitors in patients with large subependymal giant cell astrocytoma associated with tuberous sclerosis complex. World Neurosurg. 2017;107:1053 e1–1053 e6.
   Web of Science ®Google Scholar
• Arroyo MS, Krueger DA, Broomall E, et al. Acute management of symptomatic subependymal giant cell astrocytoma with everolimus. Pediatr Neurol. 2017;72:81–85.
   PubMed Web of Science ®Google Scholar
• Moavero R, Carai A, Mastronuzzi A, et al. Everolimus alleviates obstructive hydrocephalus due to subependymal giant cell astrocytomas. Pediatr Neurol. 2017;68:59–63.
   PubMed Web of Science ®Google Scholar
• Kuki I, Kawawaki H, Okazaki S, et al. Efficacy and safety of everolimus in patients younger than 12months with congenital subependymal giant cell astrocytoma. Brain Dev. 2018 May;40(5):415–420.
   PubMed Web of Science ®Google Scholar
• Fukumura S, Watanabe T, Takayama R, et al. Everolimus treatment for an early infantile subependymal giant cell astrocytoma with tuberous sclerosis complex. J Child Neurol. 2015 Aug;30(9):1192–1195.
   PubMed Web of Science ®Google Scholar
• Goyer I, Dahdah N, Major P. Use of mTOR inhibitor everolimus in three neonates for treatment of tumors associated with tuberous sclerosis complex. Pediatr Neurol. 2015 Apr;52(4):450–453.
   PubMed Web of Science ®Google Scholar
• Franz DN, Lawson JA, Yapici Z, et al. Everolimus for treatment-refractory seizures in TSC: extension of a randomized controlled trial. Neurol Clin Pract. 2018 Oct;8(5):412–420.
   PubMedGoogle Scholar
• Nabbout R, Belousova E, Benedik MP, et al. Epilepsy in tuberous sclerosis complex: findings from the TOSCA Study. Epilepsia Open. 2019 Mar;4(1):73–84.
   PubMedGoogle Scholar
• Franz DN, Lawson JA, Yapici Z, et al. Everolimus dosing recommendations for tuberous sclerosis complex-associated refractory seizures. Epilepsia. 2018 Jun;59(6):1188–1197.
   PubMed Web of Science ®Google Scholar
• Curatolo P, Franz DN, Lawson JA, et al. Adjunctive everolimus for children and adolescents with treatment-refractory seizures associated with tuberous sclerosis complex: post-hoc analysis of the phase 3 EXIST-3 trial. Lancet Child Adolesc Health. 2018 Jul;2(7):495–504.
   PubMedGoogle Scholar
• Krueger DA, Wilfong AA, Mays M, et al. Long-term treatment of epilepsy with everolimus in tuberous sclerosis. Neurology. 2016 Dec 06;87(23):2408–2415.
   PubMed Web of Science ®Google Scholar
• Samueli S, Dressler A, Groppel G, et al. Everolimus in infants with tuberous sclerosis complex-related West syndrome: first results from a single-center prospective observational study. Epilepsia. 2018 Sep;59(9):e142–e146.
   PubMed Web of Science ®Google Scholar
• Mingarelli A, Vignoli A, La Briola F, et al. Dramatic relapse of seizures after everolimus withdrawal. Eur J Paediatr Neurol. 2018 Jan;22(1):203–206.
   PubMed Web of Science ®Google Scholar
• Mizuguchi M, Ikeda H, Kagitani-Shimono K, et al. Everolimus for epilepsy and autism spectrum disorder in tuberous sclerosis complex: EXIST-3 substudy in Japan. Brain Dev. 2019 Jan;41(1):1–10.
   PubMed Web of Science ®Google Scholar
• Kilincaslan A, Kok BE, Tekturk P, et al. beneficial effects of everolimus on autism and attention-deficit/hyperactivity disorder symptoms in a group of patients with tuberous sclerosis complex. J Child Adolesc Psychopharmacol. 2017 May;27(4):383–388.
   PubMed Web of Science ®Google Scholar
• Overwater IE, Rietman AB, Mous SE, et al. A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex. Neurology. 2019;93(2):e200–e209.
   PubMedGoogle Scholar
• Bissler JJ, Kingswood JC, Radzikowska E, et al. Everolimus long-term use in patients with tuberous sclerosis complex: four-year update of the EXIST-2 study. PLoS One. 2017;12(8):e0180939.
   PubMed Web of Science ®Google Scholar
• McCormack FX, Inoue Y, Moss J, et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med. 2011 Apr 28;364(17):1595–1606.
   PubMed Web of Science ®Google Scholar
• Koenig MK, Bell CS, Hebert AA, et al. Efficacy and safety of topical rapamycin in patients with facial angiofibromas secondary to tuberous sclerosis complex: the TREATMENT randomized clinical trial. JAMA Dermatol. 2018 Jul 1;154(7):773–780.
   PubMed Web of Science ®Google Scholar
• Wataya-Kaneda M, Ohno Y, Fujita Y, et al. Sirolimus gel treatment vs placebo for facial angiofibromas in patients with tuberous sclerosis complex: a randomized clinical trial. JAMA Dermatol. 2018 Jul 1;154(7):781–788.
   PubMed Web of Science ®Google Scholar
• Wataya-Kaneda M, Nakamura A, Tanaka M, et al. Efficacy and safety of topical sirolimus therapy for facial angiofibromas in the tuberous sclerosis complex: a randomized clinical trial. JAMA Dermatol. 2017 Jan 1;153(1):39–48.
   PubMed Web of Science ®Google Scholar
• Wagner R, Riede FT, Seki H, et al. Oral everolimus for treatment of a giant left ventricular rhabdomyoma in a neonate-rapid tumor regression documented by real time 3D echocardiography. Echocardiography. 2015 Dec;32(12):1876–1879.
   PubMed Web of Science ®Google Scholar
• Shibata Y, Maruyama H, Hayashi T, et al. Effect and complications of everolimus use for giant cardiac rhabdomyomas with neonatal tuberous sclerosis. AJP Rep. 2019 Jul;9(3):e213–e217.
   PubMed Web of Science ®Google Scholar
• Demir HA, Ekici F, Yazal Erdem A, et al. Everolimus: a challenging drug in the treatment of multifocal inoperable cardiac rhabdomyoma. Pediatrics. 2012 Jul;130(1):e243–7.
   PubMed Web of Science ®Google Scholar
• Tiberio D, Franz DN, Phillips JR. Regression of a cardiac rhabdomyoma in a patient receiving everolimus. Pediatrics. 2011 May;127(5):e1335–7.
   PubMed Web of Science ®Google Scholar
• Kocabas A, Ekici F, Cetin II, et al. Cardiac rhabdomyomas associated with tuberous sclerosis complex in 11 children: presentation to outcome. Pediatr Hematol Oncol. 2013 Mar;30(2):71–79.
   PubMed Web of Science ®Google Scholar
• Colaneri M, Quarti A, Pozzi M. Everolimus-induced near-resolution of giant cardiac rhabdomyomas and large renal angiomyolipoma in a newborn with tuberous sclerosis complex. Cardiol Young. 2016 Jun;26(5):1025–1028.
   PubMed Web of Science ®Google Scholar
• Chang JS, Chiou PY, Yao SH, et al. Regression of neonatal cardiac rhabdomyoma in two months through low-dose everolimus therapy: a report of three cases. Pediatr Cardiol. 2017 Oct;38(7):1478–1484.
   PubMed Web of Science ®Google Scholar
• Dahdah N. Everolimus for the treatment of tuberous sclerosis complex-related cardiac rhabdomyomas in pediatric patients. J Pediatr. 2017 Nov;190(21–26):e7.
   Google Scholar
• Dhulipudi B, Bhakru S, Rajan S, et al. Symptomatic improvement using everolimus in infants with cardiac rhabdomyoma. Ann Pediatr Cardiol. 2019 Jan-Apr;12(1):45–48.
   PubMed Web of Science ®Google Scholar
• Garg A, Gorla SR, Kardon RE, et al. rapid involution of large cardiac rhabdomyomas with everolimus therapy. World J Pediatr Congenit Heart Surg. 2019;9:2150135118822711.
   Google Scholar
• Davis KA, Dodeja AK, Clark A, et al. Use of cardiac MRI to assess antitumor efficacy of everolimus in sporadic cardiac rhabdomyoma. Pediatrics. 2019 Jun;143(6):e20182495.
   Web of Science ®Google Scholar
• Hoshal SG, Samuel BP, Schneider JR, et al. Regression of massive cardiac rhabdomyoma on everolimus therapy. Pediatr Int. 2016 May;58(5):397–399.
   PubMed Web of Science ®Google Scholar
• Choudhry S, Nguyen HH, Anwar S. Rapid resolution of cardiac rhabdomyomas following everolimus therapy. BMJ Case Rep. 2015 Dec;9:2015.
   Google Scholar
• Oztunc F, Atik SU, Gunes AO. Everolimus treatment of a newborn with rhabdomyoma causing severe arrhythmia. Cardiol Young. 2015 Oct;25(7):1411–1414.
   PubMed Web of Science ®Google Scholar
• Dogan V, Yesil S, Kayali S, et al. Regression of symptomatic multiple cardiac rhabdomyomas associated with tuberous sclerosis complex in a newborn receiving everolimus. J Trop Pediatr. 2015 Feb;61(1):74–77.
   PubMed Web of Science ®Google Scholar
• Mlczoch E, Hanslik A, Luckner D, et al. Prenatal diagnosis of giant cardiac rhabdomyoma in tuberous sclerosis complex: a new therapeutic option with everolimus. Ultrasound Obstet Gynecol. 2015 May;45(5):618–621.
   PubMed Web of Science ®Google Scholar
• Bornaun H, Oztarhan K, Erener-Ercan T, et al. Regression of cardiac rhabdomyomas in a neonate after everolimus treatment. Case Rep Pediatr. 2016;2016:8712962.
   PubMed Web of Science ®Google Scholar
• Franz DN, Budde K, Kingswood JC, et al. Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: final 4-year results from the randomized EXIST-1 and EXIST-2 studies. J Eur Acad Dermatol Venereol. 2018 Oct;32(10):1796–1803.
   PubMed Web of Science ®Google Scholar
• Nallasamy N, Seider MI, Gururangan S, et al. Everolimus to treat aggressive retinal astrocytic hamartoma in tuberous sclerosis complex. J Aapos. 2017 Aug;21(4):328–331.
   PubMed Web of Science ®Google Scholar
• Zipori AB, Tehrani NN, Ali A. Retinal astrocytoma regression in tuberous sclerosis patients treated with everolimus. J Aapos. 2018 Feb;22(1):76–79.
   PubMed Web of Science ®Google Scholar
• Marciano S, Mutolo MG, Siracusano M, et al. Everolimus for retinal astrocytic hamartomas in tuberous sclerosis complex. Ophthalmol Retina. 2018 Mar;2(3):257–260.
   PubMedGoogle Scholar
• Davies M, Saxena A, Kingswood JC. Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide. Orphanet J Rare Dis. 2017 Feb 15;12(1):35.
   PubMed Web of Science ®Google Scholar
• Saffari A, Brosse I, Wiemer-Kruel A, et al. Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study. Orphanet J Rare Dis. 2019 May 3;14(1):96.
   PubMedGoogle Scholar
• Krueger DA, Capal JK, Curatolo P, et al. Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): multicentre clinical experience. Eur J Paediatr Neurol. 2018 Nov;22(6):1066–1073.
   PubMed Web of Science ®Google Scholar
• Sparagana S, Franz DN, Krueger DA, et al. Pooled analysis of menstrual irregularities from three major clinical studies evaluating everolimus for the treatment of tuberous sclerosis complex. PLoS One. 2017;12(10):e0186235.
   PubMed Web of Science ®Google Scholar
• Kwiatkowski DJ, Palmer MR, Jozwiak S, et al. Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. Eur J Hum Genet. 2015 Dec;23(12):1665–1672.
   PubMed Web of Science ®Google Scholar