# Defining ichthyosis in Sjogren-Larsson syndrome for clinical trial preparedness

> **NIH NIH R21** · UNIVERSITY OF NEBRASKA MEDICAL CENTER · 2022 · $191,875

## Abstract

PROJECT SUMMARY
Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disease caused by mutations in ALDH3A2 and associated with
deficient activity of fatty aldehyde dehydrogenase (FALDH). Symptoms of SLS include congenital ichthyosis, spastic
diplegia, intellectual disability, and a distinctive retinopathy. FALDH deficiency results in accumulation of fatty alcohols,
ether glycerolipids (alkylglycerols) and cholesterol in the stratum corneum. The prevalence of SLS is estimated to be
1:250,000.
There are no FDA-approved drugs for SLS or other forms of ichthyosis. Although clinical trials in SLS based on the known
enzymatic and biochemical defects are just now beginning, evaluation of treatment efficacy for the cutaneous
symptoms suffers from an imprecise measure of ichthyosis severity, which currently relies on subjective clinical
judgment alone, and lack of an effective cutaneous biomarker. We propose to address this weakness for future clinical
trials of SLS by applying innovative methods for objectively measuring ichthyosis severity and characterizing newly
discovered lipid abnormalities in the skin.
A population of 15 SLS subjects will be recruited from those already followed at our institution as part of a longitudinal
natural history study of SLS. We will define skin thickness and elasticity using innovative high frequency ultrasound
methods with shear wave elastography, characterize functional abnormalities in the epidermal water barrier, score
clinical severity of the ichthyosis using a validated clinical scoring system, and determine whether these measures
correlate with stratum corneum lipid content of alkylglycerols and cholesterol. When completed, these studies will
define the structural and functional severity of ichthyosis in Sjögren-Larsson syndrome and potentially identify lipid
biomarkers that will be important for clinical trials.

## Key facts

- **NIH application ID:** 10465152
- **Project number:** 5R21HD106350-02
- **Recipient organization:** UNIVERSITY OF NEBRASKA MEDICAL CENTER
- **Principal Investigator:** WILLIAM B. RIZZO
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $191,875
- **Award type:** 5
- **Project period:** 2021-08-10 → 2024-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10465152

## Citation

> US National Institutes of Health, RePORTER application 10465152, Defining ichthyosis in Sjogren-Larsson syndrome for clinical trial preparedness (5R21HD106350-02). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10465152. Licensed CC0.

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