Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome

Recruiting

Phase 2/3 Results N/A

Trial Description

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 Description

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.

Conditions

Interventions

  • 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.

Outcomes

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)

Sponsors