Q85.1 G40
Conditions
Interventions
Group 1: In patients aged 2 to 18 years with focal epilepsy with and without TSC, blood and urine samples are obtained once each for metabolic analyses
Sponsors
Epilepsiezentrum Kork
Eligibility
Sex/Gender
All
Age
2 Years to 18 Years
Inclusion criteria
Inclusion criteria: - Age 2 to 18 years - Genetic diagnosis of TSC (TS-cohort) - EDiagnosis of epilepsy (all participants of the study)
Exclusion criteria
Exclusion criteria: - Diabetes mellitus - Treatment with mTOR inhibitor, including external application (e.g. Rapamycin) - Treatment with ketogenic diet - Treatment with drugs influencing metabolism, including anti-epileptic drugs - Liver Disease (AST, ALT > 2 x ULN, Bilirubin > 1.5 x ULN) - Recent (<1month) status epilepticus - Acute illness (including antibiotic treatment) in the preceding month - eGFR < 60ml/min/1.73m2
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Evaluation of metabolic profiles allowing for targeted treatment options by drugs or nutrition (for example ketogenic diet) | — |
Secondary
| Measure | Time frame |
|---|---|
| Analyses of products in the metabolic pathway of carbohydrates, fat and aminoacids in blood and urine by mass spectroscopy and magentic resonance. In the future and depending on the results, genetic sequencing may follow in order to durther analyse the discovered metabolic changes. | — |
Countries
Germany
Contacts
Public ContactThomas Bast
Epilepsiezentrum Kork
Outcome results
None listed