Sirolimus shows promise for Sturge-Weber

Sirolimus is well-tolerated and may provide cognitive benefits for patients with the Sturge-Weber syndrome, reports a new study.

The study included 10 Sturge-Weber syndrome patients with brain involvement and cognitive impairments. Participants were treated with oral sirolimus for 6 months, with a maximum dose of 2 mg/day and a target trough level of 4–6 ng/mL. At each visit, outcomes were assessed at 6 months through neuropsychological testing, electroencephalography, and port-wine scoring.

One patient withdrew early due to several mild adverse events, such as seizures, behavioural issues, and aggression. In the remaining patients, all adverse events that developed were considered to be mild in severity, except for one grade 2 episode of upper respiratory infection. All patients developed at least one adverse event possibly or probably related to sirolimus.

At the end of the study, four patients elected to stay on sirolimus treatment, and two of them were still taking the drug by the time of manuscript preparation.

In terms of efficacy, the researchers reported a significant increase in processing speed after sirolimus treatment (p=0.031). There were also improvements in the anger (p=0.011), cognitive function (p=0.015), and depression (p=0.046) subscales of the neuroquality of life scale.

“A future, randomized placebo-control trial of sirolimus in Sturge-Weber syndrome patients is needed to further understand these potentially beneficial effects,” the researchers said.