# Therapeutics that Correct the Underlying Cause of Smith-Magenis Syndrome (SMS)

> **NIH NIH R21** · NEUROSANT THERAPEUTICS LLC · 2024 · $189,056

## Abstract

Project Abstract
Smith-Magenis syndrome (SMS) is an autosomal dominant neurodevelopmental disorder characterized by the
deletion of one Rai1 allele (Retinoic Acid Induced-1). As a transcription factor, this deletion causes a reduction
in Rai1 expression and concomitant changes in expression of downstream targets, many critical to
neurodevelopment and function. We have assembled a small library that were selected based on their ability to
increase Rai1 expression. Our overarching goal is to demonstrate that Rai1 expression in SMS can be increased
using a pharmacologic approach and many of the transcriptomic defects can be corrected.

## Key facts

- **NIH application ID:** 10869445
- **Project number:** 1R21HD115076-01
- **Recipient organization:** NEUROSANT THERAPEUTICS LLC
- **Principal Investigator:** Shawn DeFrees
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $189,056
- **Award type:** 1
- **Project period:** 2024-07-10 → 2026-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10869445

## Citation

> US National Institutes of Health, RePORTER application 10869445, Therapeutics that Correct the Underlying Cause of Smith-Magenis Syndrome (SMS) (1R21HD115076-01). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10869445. Licensed CC0.

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