# Improved clinical and biologic outcome measures in Aicardi Goutieres Syndrome

> **NIH NIH U54** · CHILDREN'S HOSP OF PHILADELPHIA · 2021 · $121,861

## Abstract

ABSTRACT
Aicardi Goutières Syndrome (AGS) is a rare genetic disorder of excessive interferon (IFN) production, resulting
in severe, systemic inflammatory injury and potentially profound disabilities. Most individuals affected by AGS
exhibit some degree of neurologic impairment, ranging from mild spastic paraparesis to severe global
developmental delay. Additionally, interferon overexpression results in systemic manifestations and recurrent
aseptic fevers with severe, chronic irritability. AGS therapeutic trials are limited by heterogeneous patient
populations and the lack of disease-specific outcome measures.
In Specific Aim 1, we will characterize clinically distinct AGS subgroups at the time of presentation and assess
correlation with longitudinal history. We anticipate the identification of cohorts based on statistically relevant
disease features that best predict clinical trajectory and outcome.
In Specific Aim 2, we will define a novel AGS rating scale to assess longitudinal change. We hypothesize that
application of a disease-specific clinical rating scale at defined time points will more closely correlate with disease
progression compared to a daily symptom diary and traditional clinical outcome assessment tool results obtained
in Project 1.
In Specific Aim 3, we will explore the proportionality between a prospective biomarker, interferon signaling gene
(ISG) expression, and clinical outcomes.
The expected outcome of these aims is the development of tools for clinical trial readiness in AGS. We will
identify clinically distinct subgroups of AGS, design an AGS-specific clinical rating scale, and explore the
relationship of ISGs to clinical disease. It is expected that the development of these tools will facilitate clinical
trial design, with immediate utilization in this setting.

## Key facts

- **NIH application ID:** 10266090
- **Project number:** 5U54NS115052-03
- **Recipient organization:** CHILDREN'S HOSP OF PHILADELPHIA
- **Principal Investigator:** Adeline Lucie Vanderver
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $121,861
- **Award type:** 5
- **Project period:** 2019-09-30 → 2024-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10266090

## Citation

> US National Institutes of Health, RePORTER application 10266090, Improved clinical and biologic outcome measures in Aicardi Goutieres Syndrome (5U54NS115052-03). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10266090. Licensed CC0.

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