Neurodevelopmental disorders
Conditions
Interventions
Bumetanide 2dd1.0-2.0mg daily.
Sponsors
Vrije Universiteit Medisch Centrum
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Inclusion in BAMBI, BASCET or BATSCH trial; 2. Written informed consent Or 1. Males or females aged >=7 years to <=15 years; 2. One of the following: a. Above clinical cut-off scores of altered sensory reactivity on the Sensory Profile and either a clinical ASD or ADHD diagnosis based on DSM-5 (or DSM-IV) or an epilepsy diagnosis, b. Criteria met for autism on DSM-IV or V and Social Responsiveness Scale (SRS) c. A history of behavioral problems combined with a definite diagnosis of TSC: either meeting criteria for clinical definite TSC, or a mutation identified in the TSC1 or TSC2 gene; 3. Written informed consent
Exclusion criteria
Exclusion criteria: Inability to comply with the protocol specified procedures for the duration of the study, including treatment anblood 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, card iovascular (arrhythmias, QT interval lengthening), endocrinologic, immunologic, hematologic disease, dehydra tion 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 st25; estimated glomerular filtration rate < 90 ml/ min/1.73m2), congenital or acquired renal disease with decreased concentration capacity (tubulopathy, diabetes insip idus) and liver insufficiency interfering with excretion or metabolism of bumetanide; 5. Start of behavioral t reatment during study; 6. Treatment with psychoactive medications, including antipsychotics and AEDs, exce pt methylphenidate s allowed albeit on a stable regime in terms of types and dosage from 2 months pri or to the study to the end of the study; 7. Treatment with NSAIDS, aminoglycosides, digitals, antihypertensive age nts, indomethacin, probenecid, acetazolamide, Lithium, other diuretics (e.g., furosemide, hydrochlorothiazide), drugs known to have a nephrotoxic potential; 8. Documented history of hypersensitivity reaction to sul fonamide derivatives; 9. Body weight < 30 kg
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| PROMIS proxy questionnaires: • Physical stress experiences • Psychological stress experience • Sleep disturbances • Sleep-related impairment • Cognitive function • Anxiety • Fatigue • Peer relationships • Life satisfaction • Depressive symptoms | — |
Secondary
| Measure | Time frame |
|---|---|
| - Conventional questionnaires: Repetitive behavior scale - revised (RBS-R), Social Responsiveness Scale (SRS), aberrant behavior checklist (ABC), Sensory profile (SP-NL) - resting-state electroencephalogram (rsEEG) - neurocognitive test battery. - cellular assays (if consent is obtained) - genetic analysis (WES) (if consent is obtained) | — |
Countries
Netherlands
Outcome results
None listed