Dravetsyndrome severe epilepsy syndrome Severe myoclonic epilepsy of infancy SMEI
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
No minimum to 64 Years
Inclusion criteria
Inclusion criteria: - Participants carry a SCN1A¬-mutation associated with a Dravet syndrome phenotype OR - Participants have refractory epilepsy other than Dravet syndrome and either use at least 2 anti-seizure medication or use at least 1 ASM and have a vagal nerve stimulator or are/were on the ketogenic diet (and a bloodspot was obtained before starting the diet) OR - Participants have undergone metabolic testing at the metabolic diagnostics section of the Genetic department of the UMC Utrecht after 2016 and remnant bloodsamples are available AND - Participants are living in the Netherlands
Exclusion criteria
Exclusion criteria: - Patients with a variant of unknown significance (class III) in the SCN1A gene - Patients with epilepsy caused by a mitochondrial disorder - Patients who are currently on the ketogenic diet and for whom a bloodspot was not obtained before starting the diet - Patients with an active infection at the time of blood retrieval - Patients with substance abuse
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| For all objectives the endpoint is the data from the metabolomics analysis. Per subquestion we will compare different patient groups. To determine the metabolic profile of Dravet syndrome we will compare the data from the metabolomics analysis between the group with Dravet patients, the control group with other refractory epilepsies and the control group without epilepsy. To determine the association between the metabolome and the severity of the disease we will compare data from the metabolomics analysis within the group with Dravet syndrome. We will divide the group with Dravet syndrome into three categories: severe, moderate and mild phenotype. The division will be based on - Development: The classification severe to profound intellectual disability, moderate intellectual disability, mild intellectual disability will be based on the DSM V criteria18. - Severity of epilepsy: will be based on frequency seizures and of incidence of status epilepticus. For both minor seizures (short absences, focal motor seizures and myoclonias) and major seizures (generalized tonic-clonic seizures, tonic seizures, focal seizures with impaired awareness, prolonged seizures) the frequency will be scored at the time of inclusion with points (score 4*=*daily seizures, score 3*=*weekly seizures, score 2*=*monthly seizures, score 1*=*yearly seizures, score 0*=*seizure-free (> 1*year)). The incidence of status epilepticus will be scored as well. (score 3=> 6 per year, score 2= > 2 and 1 year ago). The scores will be added per patient. The division into the three categories will be based upon the group mean scores. - Number of ASM in current use: mild = 1 ASM, moderate= 2-3 ASM (ketogenic diet or vagal nerve stimulator is counted as 1 ASM), severe=>4 ASM - Mobility, according to the Functional Mobility Scale. Mild= FMS score 5 or 6, moderate=FMS score 2, 3 or 4, severe= FMS score 1. To determine the response to the ketogenic diet, we will compare responders and | — |
Countries
Netherlands
Outcome results
None listed