None listed
Conditions
Brief summary
GREP is a clinical trial that will study if performing a comprehensive genetic test called whole genome sequencing (WGS) will find out the genetic cause of drug-resistant epilepsy in more patients than usual investigations. It will also look at other ways whole genome sequencing may influence patients' life and healthcare needs, and whether it is good value for money. We plan to enrol children and adults who suffer from drug-resistant epilepsy and are likely to have a genetic cause of their illness. Suitable patients who agree to take part in the trial will have their blood collected. Whole genome sequencing will be performed immediately in half of the patients and delayed by 12 months in the other half. We will compare how earlier genetic testing results influence diagnosis, care and well-being of the patients, and overall cost-effectiveness.
Interventions
Whole genome sequencing - immediate vs. delayed
After a consultation with a genetics counsellor patients who consent to participation in the trial will have blood drawn for whole genome sequencing.
Patients will attend clinic twice for a discussion of genetic testing results - 3 months ( for immediate testing group) and 15 months ( delayed testing group) after whole genome sequencing. First visit will be dedicated to discussion of epilepsy related pathogenic or likely pathogenic variants and p
Whole genome sequencing - immediate vs. delayed After a consultation with a genetics counsellor patients who consent to participation in the trial will have blood drawn for whole genome sequencing. Patients will attend clinic twice for a discussion of genetic testing results - 3 months ( for immediate testing group) and 15 months ( delayed testing group) after whole genome sequencing. First visit will be dedicated to discussion of epilepsy related pathogenic or likely pathogenic variants and pharmacogenomic variants. Patients who chose to receive secondary results of genetic testing will then attend a second visit at 6 months ( immediate group) and 18 months ( delayed group).
Sponsors
Monash University
Study design
Allocation
Randomised controlled trial
Intervention model
Other
Primary purpose
Diagnosis
Masking
Open (masking not used)
Eligibility
Sex/Gender
All
Age
1 Months to 65 Years
Healthy volunteers
No
Inclusion criteria
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.
Exclusion criteria
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.
Outcome results
None listed