# Facioscapulohumeral Dystrophy Clinical Trial Foundations

> **NIH NIH P50** · UNIVERSITY OF WASHINGTON · 2020 · $582,972

## Abstract

PROJECT 2 - ABSTRACT
Previously, we have established a correlation between muscle function, histopathology, MRI imaging
characteristics, and candidate molecular biomarkers. This proposal will extend the original study to further
refine the temporal relationship of MRI abnormalities, tissue pathology, RNA biomarkers, and disease
progression; validate these correlations in an independent FSHD cohort and extend these studies to include
DNA methylation; and determine whether immune cell molecular phenotyping identifies an oligoclonal T-cell
expansion in FSHD muscle. This will be accomplished by three aims. Aim 1 will extend our previous
longitudinal biomarker clinical study of FSHD to determine correlations with disease progression. Individuals
with FSHD have slowly progressive weakness that requires at least 12 months to demonstrate significant
decline in overall muscle strength. In this aim we will extend our original study to determine the predictive value
of different measures of disease activity. Aim 2 will include a third clinical study site to validate and expand
molecular and imaging correlations and determine the relationship to disease progression. Collection of a
validation data set is essential to understand the true predictive power of associations between the MRI
findings, muscle pathology, and RNA biomarkers suggested from our prior study. Additionally, the degree of
DNA methylation at the DUX4 locus will be determined to examine its relation to the rate of disease penetrance
and progression. Aim 3 will perform a molecular analysis of the inflammatory response in FSHD muscle. Our
prior study of MRI and muscle biopsy in FSHD shows a correlation of STIR+ signal with an inflammatory cell
infiltrate in FSHD. This aim will determine the molecular phenotype of the infiltrating cells, their clonal
complexity, and the sequence of any dominate T-cell receptor sequences. The significance of this study is
that it will identify and validate measurements that predict disease activity and progression in FSHD muscles
that will inform rigorous trial design for future therapeutic trials.

## Key facts

- **NIH application ID:** 10008977
- **Project number:** 5P50AR065139-07
- **Recipient organization:** UNIVERSITY OF WASHINGTON
- **Principal Investigator:** Stephen J Tapscott
- **Activity code:** P50 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $582,972
- **Award type:** 5
- **Project period:** 2014-05-07 → 2023-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10008977

## Citation

> US National Institutes of Health, RePORTER application 10008977, Facioscapulohumeral Dystrophy Clinical Trial Foundations (5P50AR065139-07). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10008977. Licensed CC0.

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