# Developing Biomarkers and Treatments for ASD and ID in Tuberous Sclerosis Complex

> **NIH NIH U54** · BOSTON CHILDREN'S HOSPITAL · 2021 · $362,339

## Abstract

PROJECT 1: DEVELOPING BIOMARKERS AND TREATMENTS FOR ASD AND ID IN TUBEROUS
SCLEROSIS COMPLEX
SUMMARY
Current treatments for Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) can alleviate some
symptoms but are limited in that none mechanistically target the underlying molecular basis for these conditions.
Tuberous Sclerosis Complex (TSC) is a genetic disorder with high penetrance of ASD and ID. Inhibitors of the
mechanistic target of rapamycin (mTOR) pathway are now approved for multiple clinical manifestations of TSC,
including subependymal giant cell astrocytoma (SEGA), renal angiomyolipoma (AML),
lymphangioleiomyomatosis (LAM), and epilepsy. To develop mTOR inhibitors and next-generation treatments
for ASD and ID in TSC, there is critical need to better characterize the neurodevelopmental phenotype and to
develop suitable biomarkers predictive of ASD/ID risk, severity, and treatment response. Using a prospective,
longitudinal, multi-center design, we will (1) characterize the phenotype of ASD and ID in a large cohort of
pediatric and adult patients with TSC in a prospective, multi-center longitudinal design; (2) identify
electrophysiological biomarkers of synaptic function and connectivity associated with ASD and ID in TSC; and
(3) evaluate the suitability of the TAND Checklist as TSC-specific research tool for assessing clinically-
meaningful outcomes in future ASD and ID clinical trials. Completion of these aims will provide mechanistic
insight into the underlying pathological processes contributing to development of ASD and ID in TSC that can
be targeted with mTOR inhibitors and next generation treatments in future clinical trials.

## Key facts

- **NIH application ID:** 10242079
- **Project number:** 5U54NS092090-08
- **Recipient organization:** BOSTON CHILDREN'S HOSPITAL
- **Principal Investigator:** Darcy Krueger
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $362,339
- **Award type:** 5
- **Project period:** 2014-09-20 → 2024-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10242079

## Citation

> US National Institutes of Health, RePORTER application 10242079, Developing Biomarkers and Treatments for ASD and ID in Tuberous Sclerosis Complex (5U54NS092090-08). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10242079. Licensed CC0.

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