Bourneville disease Tuberous Sclerosis Tuberous Sclerosis Complex
Conditions
Interventions
Patients will be treated with bumetanide, which will be provided as an add-on
treatment, supplementary to the regular use of AEDs or other (allowed)
co-medications. Patients will be given a dose bet
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Males or females aged *8 years; 2. Definite diagnosis of TSC: either meeting criteria for clinical definite TSC, or a mutation identified in the TSC1 or TSC2 gene; 3. History of behavioural problems; 4. Written informed consent.
Exclusion criteria
Exclusion criteria: 1. Inability to comply with the protocol-specified procedures for the duration of the study, including treatment and blood sampling to control diuretic effects; 2. Presence of a severe medical or genetic disorder other than related to TSC or epilepsy; 3. Serious, unstable illnesses including, gastroenterological, respiratory, cardiovascular (arrhythmias, QT interval lengthening), endocrinologic, immunologic, hematologic disease, dehydration or hypotension, electrolyte disturbances (Na 13y]); 4. Renal insufficiency (CKD st2-5; estimated glomerular filtration rate
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary endpoint will be the change in score on the Aberrant Behaviour Checklist-Irritability subscale. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary endpoints involve neurocognitive, behavioural and quality of life parameters; markers from neurophysiological investigations: brain evoked P50 suppression, prepulse inhibition, mismatch negativity and resting-state EEG. | — |
Countries
Netherlands
Outcome results
None listed