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.
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.
- Sirolimus Drug
Other Names: Rapamycin; Rapamune Intervention Desc: Low dose oral sirolimus ARM 1: Kind: Experimental Label: Sirolimus Description: All subjects will receive the sirolimus oral solution to be taken at home twice daily and will be treated on an outpatient basis. The drug will be taken for six months.
|Type||Measure||Time Frame||Safety Issue|
|Primary||Cognitive impairments||Baseline and after six months on the study drug|
|Secondary||Change in quantitative EEG||Baseline and after six months on the study drug|
|Secondary||Sturge-Weber syndrome clinical neuroscore||First visit (0 weeks), 2 weeks, 4 weeks, 8 weeks, 16 weeks and 28 weeks (study end)|
|Secondary||Sturge-Weber syndrome birthmark score||Visits at 2 weeks (baseline) and 28 weeks (study end)|
|Secondary||Impact on sirolimus on seizures||First visit (0 weeks), 2 weeks, 4 weeks, 8 weeks, 16 weeks and 28 weeks (study end)|