Tuberous Sclerosis Complex a rare genetic condition causing seizures
Conditions
Interventions
No investigational product or therapeutic intervention is administered as part of this study. All treatments, including anti-seizure medications , ketogenic diet therapy, and mTOR inhibitors, are pres
Study procedures are limited to biological sample collection (blood samples for metabolomic analyses) and data analysis for research purposes.
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
No minimum to 99 Years
Inclusion criteria
Inclusion criteria: Clinically definite diagnosis or a genetically-confirmed pathogenic variant in TSC1, TSC2, or in a GATOR1 gene (DEPDC5, NPRL2, NPRL3).Age 1 to 65 years (prospective cohort)Age 0 to 18 years (retrospective cohort)eGFR > 60 ml/min/1,73 m².Written informed consent
Exclusion criteria
Exclusion criteria: A potential subject who meets any of the following criteria will be excluded from participation in this study:History of diabetes.Treatment with drugs influencing metabolism, excluding anti-seizure medication.Liver disease (AST, ALT > 2 x ULN, Bilirubin > 1.5 x ULN).Patients with epilepsy caused by a mitochondrial disorder.Recent (< 1 month) status epilepticus.Acute illness (including antibiotic treatment) in the preceding month.Patients with an active infection at the time of blood retrieval.Patients with substance abuse.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary study outcome is the targeted plasma metabolite profile, with particular focus on amino acid concentrations, comparing patients with TSC to non-TSC epilepsy controls. Primary analyses assess group differences using covariate-adjusted statistical models, accounting for relevant clinical and sampling variables such as age, sex, fasting status, and mTOR-inhibitor use. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary outcomes include associations between metabolic profiles and clinical phenotypes, such as seizure burden, age at seizure onset, neurodevelopmental measures (e.g. IQ/DQ), and structural or spectroscopic brain imaging markers. Additional exploratory outcomes include metabolic differences related to treatment exposure (ketogenic diet and mTOR inhibitors), multivariate metabolic pattern analyses (e.g., principal component analysis and partial least squares–discriminant analysis), and exploratory analyses of metabolic patterns associated with epilepsy presence or severity in mTORopathy patients. Where available, repeated measures are used to explore within-subject metabolic changes. | — |
Countries
Netherlands
Contacts
Public ContactD. Abu Husein
Universitair Medisch Centrum Utrecht
Outcome results
None listed