Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS)

NCT ID: NCT01997255


Title
An Open-Label Controlled Study of Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome
Purpose
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.
Details
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.
Conditions
Sturge Weber Syndrome
Keywords
Everolimus, Epilepsy, Sturge Weber Syndrome, Port wine stain, Glaucoma
Source
Baylor College of Medicine
Sponsors
Baylor College of Medicine, Novartis Pharmaceuticals
Status
Withdrawn
Acronym
Last Updated
03 May 2016
URL
Official Link
Locations
United States