C.6 Efficacy and safety of mTOR inhibitor therapy in a Canadian paediatric tuberous sclerosis complex cohort
Bibliographic record
Abstract
Background: Tuberous Sclerosis Complex (TSC) is a genetic condition marked by multisystem benign tumours. mTOR inhibitor (mTORi) therapy is indicated for subependymal giant cell astrocytomas (SEGA), renal angiomyolipomas (AML), and drug-resistant epilepsy. This study aimed to evaluate the efficacy and safety of mTORi in our paediatric TSC cohort. Methods: Data on patient demographics, clinical outcomes, and adverse events (AEs) were obtained from SickKids’ prospective observational TSC Database (n=107). Results: 19 children (median age at diagnosis 0.6 years, range 0-8.3; F:M 10:9) received mTORi. Indications were SEGA (n=6), AML (n=4), seizures (n=4), prophylactic (n=2), AML/SEGA (n=1), seizures/AML (n=1), and seizures/SEGA (n=1). Median age at mTORi initiation was 8.4 years (range 2.1-15.4). 68.4% (n=13/19) received sirolimus and 31.6% (n=6/19) received everolimus. 24 months post-mTORi initiation, 50% showed stable SEGA (n=4/8), 50% reduced SEGA (n=4/8), 66.7% stable AML (n=8/12), 25% reduced AML (n=3/12), and 8.3% larger AML (n=1/12). Variability in reporting seizure frequency rendered mTORi effects on epilepsy inconclusive. mTORi was overall well tolerated, yet 100% (n=19/19) reported AEs, majority Grade 1-2. Conclusions: This study describes the efficacy and tolerability of mTORi in a Canadian paediatric TSC cohort, which demonstrates beneficial effects on SEGA and AML, with mild to moderate AEs reported.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.006 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.003 | 0.003 |
| Science and technology studies | 0.002 | 0.007 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; both teacher heads agree on what is shown here.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".