TSC Tuberous sclerosis complex Tubereuze sclerose complex Rapamycin Rapamycine Epilepsy Epilepsie mTOR mTORC1
Conditions
Interventions
Treatment: Rapamycin added to the standard care for 6 months.
Control group: Cross-over study. Every patient in the trial will receive rapamycin added to standard care for 6 months. Depending on rando
Sponsors
Erasmus University Medical Center
Eligibility
Inclusion criteria
Inclusion criteria: 1. Children with definite TSC; 2. Older than 3 months, up to 12 yrs old; 3. With catastrophic epilepsy (West syndrome or intractable epilepsy defined as 1 or more seizures/week despite two adequate trials of anti-epileptic drug regimens).
Exclusion criteria
Exclusion criteria: 1. Renal dysfunction; 2. Surgery during 6wk before inclusion; 3. Current infection.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary outcome is change in frequency of epileptic seizures. This will be assessed by comparing the seizure frequency at baseline to the seizure frequency after 6 months of rapamycin added to the standard care. Seizure frequency is recorded by the parents, using an epilepsy diary. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Proportion of responders (seizure reduction of 50% or more); 2. Seizure severity; 3. EEG changes; 4. Psychomotor development; 5. Side effects. | — |
Contacts
Public ContactM.C.Y. Wit, de
Erasmus MC-Sophia Children's Hospital
Outcome results
None listed