# Muscular Dystrophy Specialized Research Center: Project 2

> **NIH NIH P50** · UNIVERSITY OF IOWA · 2021 · $301,697

## Abstract

Project 2 Summary 
The long-term goal of Project 2 is to define the natural history of the dystroglycanopathies using 
established and evolving clinical measures, with the overall objective of optimizing clinical care, 
and informing and enhancing clinical trial design. This will be accomplished in 3 Aims. In Aim 1, 
we will extend our current work to define the natural history of FKRP-related 
dystroglycanopathy. We follow a unique cohort of patients aged early childhood through late 
adulthood with a range of FKRP mutations. We will expand and extend evaluation of this cohort 
using standard, validated outcome measures. We will engage those who are no longer able to 
travel due to disease progression with remote assessments allowing us to relate motor 
outcomes to real-world endpoints (loss of ambulation, need for respiratory support). We will also 
add additional evaluation sites for this patient cohort to expand the cohort and confirm that the 
outcome measures are valid across sites for the FKRP-related patient population. In Aim 2, we 
will extend our follow up of a cohort of dystroglycanopathy patients with mutations in genes 
other than FKRP. Each of these genotypes is quite rare. We will identify cohorts that share 
similar rates of motor progression who might be studied together in gene non-specific clinical 
trials. We will collect annual blood and urine samples from patients evaluated in Aims 1 and 2 
and a subset of these samples will be used in Aim 3 for proteomic biomarker identification. 
Previous work identified a set of candidate protein biomarkers for patients with FKRP mutations. 
We will validate these in a separate set of patient samples and determine if any change in 
concert with disease progression. Discovery of new very low abundance proteins will produce 
novel candidates for validation.

## Key facts

- **NIH application ID:** 10238933
- **Project number:** 5P50NS053672-17
- **Recipient organization:** UNIVERSITY OF IOWA
- **Principal Investigator:** Katherine Dianne Mathews
- **Activity code:** P50 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $301,697
- **Award type:** 5
- **Project period:** 2005-06-08 → 2025-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10238933

## Citation

> US National Institutes of Health, RePORTER application 10238933, Muscular Dystrophy Specialized Research Center: Project 2 (5P50NS053672-17). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10238933. Licensed CC0.

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