Clinical Trial: Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

Official Title: Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome

Brief Summary: The purpose of this research study is to gain a preliminary understanding of the safety of sirolimus in Sturge-Weber syndrome (SWS) and determine best outcomes to be used to assess the utility of sirolimus for the treatment of cognitive impairments related to Sturge-Weber syndrome.

Detailed Summary: Sirolimus will be administered as an adjunct to all current medications. The impact of sirolimus upon cognitive functioning in Sturge-Weber syndrome is the primary outcome measure. This outcome will be assessed using a panel of testing selected based upon extensive experience in testing cognitive function in adults and children with SWS at the Kennedy Krieger Sturge-Weber Center. Changes in a quantitative EEG before and after the trial, Sturge-Weber syndrome clinical neuroscore, port-wine birthmark score, and the impact of sirolimus upon seizures will be assessed.
Sponsor: Anne Comi, MD

Current Primary Outcome: Cognitive impairments [ Time Frame: Baseline and after six months on the study drug ]

Change over six months in cognitive functioning in Sturge-Weber syndrome is the primary outcome measure. This outcome will be assessed using a panel of testing selected based upon extensive experience in testing cognitive function in adults and children with SWS at the Kennedy Krieger Sturge-Weber Center. These will include the measures from the National Institute of Health Toolbox.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Change in quantitative EEG [ Time Frame: Baseline and after six months on the study drug ]
  • Sturge-Weber syndrome clinical neuroscore [ Time Frame: First visit (0 weeks), 2 weeks, 4 weeks, 8 weeks, 16 weeks and 28 weeks (study end) ]
  • Sturge-Weber syndrome birthmark score [ Time Frame: Visits at 2 weeks (baseline) and 28 weeks (study end) ]
    Frontal and profile photograph will be taken under standardized conditions with scoring of the port-wine birthmark for percent of face covered, thickness of birthmark, and darkness of birthmark color.
  • Impact on sirolimus on seizures [ Time Frame: First visit (0 weeks), 2 weeks, 4 weeks, 8 weeks, 16 weeks and 28 weeks (study end) ]

    Another secondary outcome measure will be an assessment of impact upon seizures. Parents/caregivers will report the following before starting study drug and at each visit:

    • Number of seizures (specifically motor seizures)
    • Seizure duration
    • Seizure Type
    • Number of episodes of status epilepticus, defined as generalized convulsive seizure lasting longer than 10 minutes
    • Number of uses of rescue medication
    • Number of ER visits/ hospitalizations for seizures


Original Secondary Outcome: Same as current

Information By: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Dates:
Date Received: February 2, 2017
Date Started: January 2017
Date Completion: January 2018
Last Updated: February 6, 2017
Last Verified: February 2017