Clinical utility and cost-effectiveness of immediate vs delayed whole genome sequencing for refractory epilepsy in children and adults: a multicentre randomised controlled trial.

Monash University0 个研究点目标入组 180 人开始时间: 2018年8月28日最近更新: 2022年6月20日

适应症

试验速览

暂无简介。

•1.Age at recruitment 1 month to 65 years.
•2.Age of onset of epilepsy less or equal to 18 years.
•3.Medically refractory epilepsy (persistent seizures despite trials of 2 or more antiepileptic drugs)
•4.Suspected but unknown genetic cause of epilepsy demonstrated by (any of):
•At least one first and/or second degree relatives with epilepsy or febrile seizures.
•MRI evidence of malformation of cortical development (e.g. focal cortical dysplasia, polymicrogyria).
•Suspected genetic epilepsy syndrome.

•1.Patients with a recognised idiopathic generalised epilepsy (also called genetic generalised epilepsy) syndrome, namely childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, or generalised tonic-clonic seizures alone.
•2.Diagnosis of a known single gene syndrome (e.g. Dravet syndrome, tuberous sclerosis complex, lissencephaly, double cortex, familial cavernomas).
•3.Epilepsy related to an acquired brain insult or lesion, e.g. trauma, stroke, tumour, encephalitis (bacterial/viral/autoimmune). Hippocampal sclerosis is not excluded.
•4.Patients who had previous next generation sequencing (single gene acceptable).
•5.Patients with only psychogenic non-epileptic seizures.
•6.Patients requiring early/urgent genetic testing with results available in less than 9 months.
•7.Patients who had drug-resistant epilepsy but have become seizure-free after resective epilepsy surgery.

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