Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results.

ABSTRACT:

Objective

Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC.

Methods

We conducted a phase 1 clinical trial of sirolimus, treating five patients until 12 months of age. Enrolled infants had to be younger than 6 months of age with no history of seizures and no clinical indication for sirolimus treatment. Adverse events (AEs), tolerability, and blood concentrations of sirolimus measured by tandem mass spectrometry were tracked through 12 months of age, and clinical outcomes (seizure characteristics and developmenta

SUBMITTER: Capal JK 

PROVIDER: S-EPMC11670424 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature