Title: Cannabidiol for treating seizures caused by tuberous sclerosis complex [ID1416]
Funder: Department of Health and Social Care

Abstract: Tuberous sclerosis or tuberous sclerosis complex is a rare genetic condition that causes mainly non-cancerous (benign) tumours to develop in different parts of the body. The tumours most often affect the brain, kidneys, heart, lungs, eyes and skin. Two disease causing genes have been identified: TSC1 and TSC2. Tuberous sclerosis is present from birth, although symptoms may not appear immediately. People with tuberous sclerosis complex present at different ages with a variety of clinical manifestations. The effect of tuberous sclerosis complex on the brain can cause epilepsy, a condition that causes seizures. Seizures can progress to become refractory, which is when the seizures no longer respond to anti-epileptic medication (also known as uncontrolled or intractable). In UK clinical practice, this means that 2 different anti-epileptic drugs have failed to control a person’s seizures. Refractory epilepsy associated with tuberous sclerosis complex is associated with risks including sudden unexpected death in epilepsy, potentially fatal prolonged seizures (status epilepticus), and adverse impact on neurodevelopment. [1]_x000D_ _x000D_ The estimated prevalence of tuberous sclerosis complex in the UK is 5.6 per 100,000. [2] Seizures are the most common presenting sign of tuberous sclerosis complex and occur in approximately 84% of people. [3] The proportion of patients with tuberous sclerosis-related refractory epilepsy varies depending on the evidence source between 36% and 63%. [4] Based on this, the estimated number of people with tuberous sclerosis-related refractory epilepsy in the UK is 1555. [5]_x000D_ _x000D_ Although there is no curative treatment for tuberous sclerosis, current treatment can help to manage symptoms. Anti-seizure medications such as vigabatrin are administered to control seizures. Everolimus may also be used to reduce the frequency of seizures, which are closely linked to issues with development in infants and children. Early management is important in preventing and reducing the cognitive, neurological and psychiatric consequences for people with tuberous sclerosis complex._x000D_ _x000D_ References_x000D_ _x000D_ 1 Laxer et al. (2014) The consequences of refractory epilepsy and its treatment. Epilepsy & Behaviour. 37: 59-70._x000D_ 2 Hallet L, Foster T, Liu Z et al. (2011) Burden of diseases and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review. Current Medical Research and Opinion. 27: 1571-1583._x000D_ 3 Kingswood JC, d’Augeres GB, Belousova E et al. (2017) Tuberous sclerosis registry to increase disease awareness (TOSCA) – baseline data on 2093 patients. Orphanet Journal of Rare Diseases. 12(2): 1-13._x000D_ 4 Chu-Shore CJ, Major P, Camposano S et al. (2010) The natural history of epilepsy in tuberous sclerosis complex. Epilepsia. 51(7): 1236-1241._x000D_ 5 Office for National Statistics (2020) Population estimates for the UK, England and Wales, Scotland and Northern Ireland: mid-2019.

Lay abstract: To appraise the clinical and cost effectiveness of cannabidiol within its marketing authorisation for treating seizures caused by tuberous sclerosis complex.

Research activity codes: 6.1 PHARMACEUTICALS
Health categories: CONGENITAL DISORDERS