Prenatal mTOR Inhibitors in Tuberous Sclerosis Complex: Current Insights and Future Directions

Area of Science:

• Medical Genetics
• Developmental Biology
• Pharmacology

Background:

• Tuberous sclerosis complex (TSC) can manifest prenatally with cardiac rhabdomyomas, potentially causing hydrops fetalis and reduced cardiac output.
• mTOR inhibitors are being investigated for prenatal treatment of TSC lesions, with potential benefits for neurological complications.

Purpose of the Study:

• To review the literature on prenatal mTOR inhibitor use for tuberous sclerosis complex (TSC).
• To evaluate the efficacy and safety of prenatal mTOR inhibitors for cardiac rhabdomyomas and potential neurological outcomes.

Main Methods:

• A literature review was conducted using PubMed, EMBASE, and Cochrane CENTRAL.
• Search terms included 'mTOR Inhibitor', 'Rapamycin', 'tuberous sclerosis complex', 'prenatal', and 'rhabdomyoma'.

Main Results:

• Three prenatal mouse studies and eight papers on ten pregnant women treated with mTOR inhibitors were identified.
• Evidence suggests prenatal mTOR inhibitors can reduce cardiac rhabdomyomas.

Conclusions:

• Prenatal mTOR inhibitors show promise in reducing cardiac rhabdomyomas in TSC.
• Further investigation is required to understand their impact on intrauterine growth, neurodevelopment, and prevention of neurological complications.