# Project 1: Preclinical development of surrogate gene therapy using GALGT2

> **NIH NIH P50** · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · 2020 · $288,165

## Abstract

ABSTRACT 
Project 1 will focus on expanding the clinical usefulness of GALGT2 gene therapy using 
rAAVrh74.MCK.GALGT2. rAAVrh74.MCK.GALGT2 is a surrogate gene therapy that 
stimulates the overexpression of the human GALGT2 gene in skeletal and cardiac 
muscle. This vector stimulates changed glycosylation of the muscle membrane, 
including glycosylation of α dystroglycan, such that it mimics glycosylation normally 
found at the neuromuscular and myotendinous junctions, and increases the 
extrasynaptic expression of dystrophin and laminin α2 surrogates that are known to 
inhibit muscular dystrophy. Preclinical studies have shown that muscle GALGT2 
overexpression inhibits disease in mouse models of Duchenne Musuclar Dystrophy 
(DMD), Congenital Muscular Dystrophy 1A (CMD1A) and Limb Girdle Muscular 
Dystrophy 2D (LGMD2D). This vector utilizes an AAV serotype, rh74, that shows great 
efficacy at delivering gene expression to muscles when the vector is delivered via the 
blood, while the MCK promoter confines gene expression to muscle cells. Extensive 
proof-of-concept and safety studies have led to an IND for the use of 
rAAVrh74.MCK.GALGT2 in patients with DMD. While those clinical trials are beginning, 
we wish here to perform proof of concept studies that would allow for the expanded use 
of rAAVrh74.MCK.GALGT2 to patients with CMD1A and LGMD2D. Further studies are 
aimed at expanded the usefulness of rAAVrh74.MCK.GALGT2 gene therapy in DMD 
patients by studying whether this gene therapy can increase the therapeutic 
effectiveness of exon skipping therapy or therapy involving gene overexpression of 
follistatin, a myostatin inhibitor that builds new muscle mass. All of the experiments 
proposed here are directed toward rapid translation of novel therapeutic approaches for 
muscular dystrophies, which is the overarching goal of this CORT proposal.

## Key facts

- **NIH application ID:** 10017023
- **Project number:** 5P50AR070604-05
- **Recipient organization:** RESEARCH INST NATIONWIDE CHILDREN'S HOSP
- **Principal Investigator:** PAUL Taylor MARTIN
- **Activity code:** P50 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $288,165
- **Award type:** 5
- **Project period:** 2016-09-14 → 2022-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10017023

## Citation

> US National Institutes of Health, RePORTER application 10017023, Project 1: Preclinical development of surrogate gene therapy using GALGT2 (5P50AR070604-05). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10017023. Licensed CC0.

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