Bumetanide to Ameliorate Tuberous Sclerosis Complex Hyperexcitable Behaviors

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 17

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

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 <133 mmol/L, K <3.5 mmol/L or Ca <2.17 mmol/L [<13y] or <2.2 mmol/L [>13y]);
4. Renal insufficiency (CKD st2-5; estimated glomerular filtration rate < 90 ml/min/1.73m2), congenital or acquired renal disease with decreased concentration capacity (tubulopathy, diabetes insipidus) and liver insufficiency interfering with excretion or metabolism of bumetanide;
5. Start of behavioral treatment during study;
6. Treatment with psychoactive medications, including antipsychotics and AEDs, except methylphenidate is allowed albeit on a stable regime in terms of types and dosage from 2 months prior to the study to the end of the study;
7. Treatment with NSAIDS, aminoglycosides, digitals, antihypertensive agents, indomethacin, probenecid, acetazolamide, Lithium, other diuretics (e.g., furosemide, hydrochlorothiazide), drugs known to have a nephrotoxic potential;
8. Documented history of hypersensitivity reaction to sulfonamide derivatives;
9. Body weight < 30 kg.

Study & Design

Study Type: Interventional

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The primary endpoint will be the change in score on the Aberrant Behaviour<br /><br>Checklist-Irritability subscale.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Secondary endpoints involve neurocognitive, behavioural and quality of life<br /><br>parameters; markers from neurophysiological investigations: brain evoked P50<br /><br>suppression, prepulse inhibition, mismatch negativity and resting-state EEG.</p><br>

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Updated 10/2/2017