New treatment reduces seizures in children with tuberous sclerosis complex

Findings of a phase 3 clinical trial for the treatment of seizures associated with tuberous sclerosis complex (TSC) in children have been published today in The Lancet Child & Adolescent Health.

The international study was conducted in 25 countries, with centres across Australia led by Dr John Lawson, paediatric neurologist at Sydney Children's Hospital, Randwick and national leader in epilepsy research in children with the School of Women’s and Children’s Health, UNSW.

This trial is one of countless examples of paediatric clinical research conducted through the Clinical Research Centre at Sydney Children’s Hospital, Randwick, where the team of research nurses work tirelessly to help sick children access novel therapies and innovative research.

Tuberous sclerosis complex is a genetic disorder that is characterised by the growth of benign tumours in the brain and other organs.  A common symptom of the disorder is epilepsy, with 70 – 90% of patients with TSC suffering from seizures.

The clinical trial, called EXIST-3, tested the drug everolimus as an adjunctive therapy for TSC-associated epilepsy, meaning that it was taken in addition to the patient’s normal regiment of antiepileptic drugs. 

Participants were given either placebo, a low dose of everolimus or a high dose of everolimus, with comparable efficacy results of nearly 50% reduction in seizures for both the patients receiving low and high doses after one year of treatment.

For kids suffering from epilepsy associated with TSC, this significant reduction in seizures can greatly improve their quality of life.

“These studies are possible only through the personal sacrifices made by children and their families with rare diseases like TSC. The parents’ effort to travel even from as far as rural Qld with their often severely disabled child with seizures is incredible”, said Dr Lawson.

"Their efforts translate into a medicine that then can benefit thousands worldwide.”