Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol

Study Overview

Long-term Neuropsychologic Outcomes in Children with Tuberous Sclerosis Complex

This clinical trial focuses on the effects of mTOR inhibitors in young children diagnosed with tuberous sclerosis complex (TSC) before they are four months old. It is a two-arm, randomized, observer-blind study conducted across multiple centers in Germany.

Background

TSC is a genetic disorder that affects various organs and occurs in about 1 in 6,760 to 1 in 13,520 live births. It is linked to changes in the TSC1 or TSC2 genes, which impact the mTOR pathway, a key regulator of cell growth. While mTOR inhibitors are effective for TSC symptoms, their benefits for neuropsychological issues in older children are unclear. This study aims to determine if early treatment can prevent neuropsychological deficits before symptoms like epilepsy emerge.

Methods

The trial will include 60 participants who will receive either mTOR inhibitor treatment or standard care. The main goal is to assess cognitive development at 24 months using the Bayley Scales. Other measures will include neuropsychological outcomes at 12 months, seizure frequency, and safety assessments. Participants must be diagnosed with TSC and under four months old. The treatment, sirolimus (Rapamune®), will start within the first four months of life and continue until the child is two years old.

Conclusion

This study seeks to fill a gap in understanding how early mTOR inhibitor treatment affects young TSC patients’ neuropsychological health. The goal is to improve long-term outcomes and overall quality of life for these children.

Clinical Trial Registration

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