Investigation of metabolic changes in Tuberous sclerosis Patients with epilepsy

Recruiting

• Conditions: Q85.1; G40; Tuberous sclerosis; Epilepsy

• Registration Number: DRKS00020255
• Lead Sponsor: Epilepsiezentrum Kork

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2021-10-14
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 90

Inclusion Criteria

Age 2 to 18 years
- Genetic diagnosis of TSC (TS-cohort)
- EDiagnosis of epilepsy (all participants of the study)

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

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Evaluation of metabolic profiles allowing for targeted treatment options by drugs or nutrition (for example ketogenic diet)

Secondary Outcome Measures

Name	Time	Method
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.