Tuberous Sclerosis Complex

Tuberous sclerosis complex is a rare genetic disorder that is characterised by the growth of benign tumours in the brain, kidneys, lungs, skin and other organs.  

Symptoms of the disorder include epilepsy, kidney problems, intellectual disabilities and facial angiofibroma, requiring specialist teams in the management of the condition to address the various organ systems affected.  

The tuberous sclerosis clinic at Sydney Children’s Hospital, Randwick, comprises a multi-disciplinary group including a neurologist, nephrologist, geneticist, genetics clinical nurse consultant, dermatologist and developmental paediatrician with an extensive knowledge of tuberous sclerosis and its complications.

The team are heavily involved in research and clinical trials to bring the latest innovations in TSC to their patients, including mTOR inhibitors (rapamycin and everolimus) and specialist anti-epileptics including cannabinoid derivatives. 

Current projects

  • Cannabidiol for Intractable Epilepsy, GWEP 1521
  • Everolimus for epilepsy in TSC, EXIST-3
  • TSC neuroradiological markers for epilepsy and cognitive outcomes
  • Identifying mosaic variants in tuberous sclerosis complex and other mTOR-1 signalling pathway conditions

The research team

  • Dr David Mowat, Clinical geneticist
  • Dr John Lawson, Neurologist
  • Dr Sean Kennedy, Nephrologist
  • Dr Orli Wargon, Dermatologist
  • Dr Michelle Farrar, Neurologist
  • Dr Denise Chan, Neurologist
  • Dr Vanessa Sarkozy, Developmental paediatrician
  • Dr Clara Chung, Clinical geneticist
  • Jacqui Robinson, Genetic counsellor
  • Linda Truong, clinical trials manager

Key publications

Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience. Krueger DA, Capal JK, Curatolo P, Devinsky O, Ess K, Tzadok M, Koenig MK, Narayanan V, Ramos F, Jozwiak S, de Vries P, Jansen AC, Wong M, Mowat D, Lawson J, Bruns S, Franz DN; TSCure Research Group. Eur J Paediatr Neurol. 2018 Jul 4 [Epub ahead of print]

Efficacy and Safety of Topical Rapamycin in Patients With Facial Angiofibromas Secondary to Tuberous Sclerosis Complex: The TREATMENT Randomized Clinical Trial, Koenig M; Bell C; Hebert A; Roberson J; Samuels J; Slopis J; Tate P; Northrup H; for the TREATMENT Trial Collaborators, 2018, JAMA Dermatology

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, Curatolo P; Franz DN; Lawson JA; Yapici Z; Ikeda H; Polster T; Nabbout R; de Vries PJ; Dlugos DJ; Fan J, 2018, A The Lancet Child and Adolescent Health, vol. 2, pp. 495 - 504

The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: A review, Chan DL, Calder T, Lawson JA, Mowat D, Kennedy SE, 2018, Reviews in the Neurosciences, vol. 29, pp. 295 – 301

Everolimus dosing recommendations for tuberous sclerosis complex-associated refractory seizures, Franz DN; Lawson JA; Yapici Z; Brandt C; Kohrman MH; Wong M; Milh M; Wiemer-Kruel A; Voi M; Coello N, 2018, Epilepsia, vol. 59, pp. 1188 - 1197

Early Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental Outcome, Chung CWT, Lawson JA, Sarkozy V, Riney K, Wargon O, Shand AW, Cooper S, King H, Kennedy SE, Mowat D, 2017, Pediatric Neurology, vol. 76, pp. 20 - 26

Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex, Cardamone M; Flanagan D; Mowat D; Kennedy SE; Chopra M; Lawson JA, 2014, Journal of Pediatrics, vol. 164, pp. 1195 – 1200

Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Krueger DA, Northrup H; International Tuberous Sclerosis Complex Consensus Group. Pediatr Neurol. 2013 Oct;49(4):255-65.

Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Pediatr Neurol. 2013 Oct;49(4):243-54.

An Australian tuberous sclerosis cohort: are surveillance guidelines being met? Chopra M, Lawson JA, Wilson M, Kennedy SE, Taylor P, Buckley MF, Wargon O, Parasivam G, Camphausen C, Yates D, Mowat D. J Paediatr Child Health. 2011 Oct;47(10):711-6.