Sturge Weber Syndrome Clinical Trial
Official title:
An Open-Label Controlled Study of Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome
Sturge Weber Syndrome (SWS) is a rare disease that affects the patient's brain and causes
benign (non-cancerous) tumors to grow in the brain. One of the symptoms of SWS is epilepsy.
People with epilepsy have seizures. Some patients may also have eye problems and a red mark
on their facial skin.
This study is being done to find out if the study drug, everolimus, is safe and has helpful
effects in patients with SWS who have seizures and are not responding to their current
anti-epileptic medication.
The study drug, everolimus (Afinitor®), is supplied by Novartis Pharmaceuticals Corporation.
The main study part has 3 phases. The first phase is called the baseline phase and consists
of 1-2 study site visit(s). During this phase, the investigators will gather information
about the subject, his/her medical history, and current health.
During the second phase of the study, the subject will start taking the study drug. It will
take approximately 4 weeks to find out the right amount of study drug the subject should be
taking. This process is called the titration phase. There will be 2 visits during the
titration phase.
Once the subject are on the right amount of study drug, he/she will take that dose for about
12 weeks. This phase is called the maintenance phase and consists of 3 study site visits.
At the end of the maintenance phase, if the study doctor determines that taking everolimus
has helped to reduce the number of seizures the subject has, he/she will have the choice to
continue taking the study drug for an extended time. There will be 4 total study site visits
during the extension phase.
Study assessments:
1. Medical History: A detailed medical history will be given and the subject's medical
record will be reviewed by the study team to verify inclusion and exclusion criteria.
2. Vital Signs: Weight, height, blood pressure, pulse rate, and body temperature, will be
recorded.
3. Physical Exam: A standard physical examination will be performed at baseline, week 4,
16, and month 6 and 12 of extension visits.
4. Neurological Exam: A standard neurological examination will be performed at baseline,
week 4, 16, and month 6 and 12 of extension visits.
5. Dermatological Exam: A skin examination will be performed to assess the presence and
characteristics of Port-wine stain birthmarks.
6. Ophthalmologic Exam: An eye examination will be performed to evaluate for the presence
of glaucoma. Visual acuity, tonometry, and visual fields will be assessed.
7. Safety Laboratory Assessments: Safety laboratory assessments will be performed at
baseline, week 4, week 8, week 16, and every 3 months thereafter in the extension phase
of the study.
8. Pregnancy testing: For females of child-bearing potential, serum pregnancy will be
performed at screening and at every visit where safety laboratory assessments are being
done.
9. Antiepileptic Drug (AED) Concentrations: AED levels specific to each subject will be
performed at baseline, week 2, week 4, week 8, week 16, and every 3 months thereafter
in the extension phase of the study. This test is done to determine the blood level of
other anti-epileptic drugs the participant may be taking.
10. Everolimus Concentrations: Everolimus levels will be performed after the start of study
medication at week 2, week 4, week 8, week 16, and every 3 months thereafter in the
extension phase of the study. This test is done to determine the dose level of the
study drug that will be given at each visit.
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Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT00639730 -
Use of the Atkins Diet for Children With Sturge Weber Syndrome
|
Phase 1 | |
| Terminated |
NCT01533376 -
Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol
|
Phase 1 |