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

Study Status: Withdrawn
Recruit Status: Withdrawn
Study Type: Interventional

Official Title: An Open-Label Controlled Study of Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome

Brief Summary:

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.


Detailed Summary:

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 vi
    Sponsor: Baylor College of Medicine

    Current Primary Outcome: Evaluate the clinical effectiveness of Everolimus as an adjunct treatment to reduce the seizure activity [ Time Frame: 2 years ]

    The primary efficacy parameter will be the percentage of subjects classified as responders (greater than 50% reduction in seizure frequency during the maintenance phase as compared to the baseline phase) or near-responders (25-50% reduction in seizure frequency during the maintenance phase as compared to the baseline phase), as reported by caregivers via seizure diaries.


    Original Primary Outcome: Same as current

    Current Secondary Outcome:

    • Clinical progression of facial and/or body port-wine hemangioma [ Time Frame: 2 years ]
      Presence and progression (location and size) of the facial and/or body port-wine hemangioma assessed during dermatological examinations. This will be done using an ordinal scale 0- None; 1-Pink and flat; 2- Red and flat; 3-Red and hypertrophied; 4- Red, hypertrophied and cobblestoning
    • Clinical progression of glaucoma [ Time Frame: 2 years ]
      Presence and progression of glaucoma will be monitored through intraocular pressure assessment done at ophthalmologic exams.


    Original Secondary Outcome:

    • Clinical progression of facial and/or body port-wine hemangioma [ Time Frame: 2 years ]
      Presence and progression (location and size) of the facial and/or body port-wine hemangioma assessed during dermatological examinations. This will be done using an ordinal scale 0- None; 1-Pink and flat; 2- Red and flat; 3-Red and hypertrophied; 4- Red, hypertrophied and cobbelstoning
    • Clinical progression of glaucoma [ Time Frame: 2 years ]
      Presence and progression of glaucoma will be monitored through intraocular pressure assessment done at ophthalmologic exams.


    Information By: Baylor College of Medicine

    Dates:
    Date Received: November 15, 2013
    Date Started: April 2014
    Date Completion:
    Last Updated: May 4, 2016
    Last Verified: December 2015