# Muscular Dystrophy Specialized Research Center

> **NIH NIH P50** · UNIVERSITY OF IOWA · 2020 · $399,767

## 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:** 10048556
- **Project number:** 2P50NS053672-16
- **Recipient organization:** UNIVERSITY OF IOWA
- **Principal Investigator:** Katherine Dianne Mathews
- **Activity code:** P50 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $399,767
- **Award type:** 2
- **Project period:** 2005-06-08 → 2025-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10048556

## Citation

> US National Institutes of Health, RePORTER application 10048556, Muscular Dystrophy Specialized Research Center (2P50NS053672-16). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10048556. Licensed CC0.

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