Tuberous Sclerosis Complex MedDRA version: 20.0 Level: PT Classification code 10045138 Term: Tuberous sclerosis System Organ Class: 10010331 - Congenital, familial and genetic disorders
Conditions
Interventions
Trade Name: bumetanide
Product Name: bumetanide
Product Code: bumetanide
Pharmaceutical Form: Tablet
Sponsors
UMC Utrecht
Eligibility
Sex/Gender
All
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. Are the trial subjects under 18? yes Number of subjects for this age range: 20 F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 4 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
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 disurbances (Na, K or Ca);
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Reduce behavioral symptoms;Secondary Objective: Improve seizure control;Primary end point(s): ABC-I scale;Timepoint(s) of evaluation of this end point: 3 months | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): cognition and EEG;Timepoint(s) of evaluation of this end point: 3 months | — |
Countries
Netherlands
Contacts
Public ContactHilgo Bruining
UMC Utrecht
Outcome results
None listed