# A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Efficacy of ManNAc in Subjects with GNE Myopathy

> **NIH NIH U01** · BRIGHAM AND WOMEN'S HOSPITAL · 2021 · $1,275,264

## Abstract

PROJECT SUMMARY
GNE myopathy is a slowly progressive muscle disease resulting in marked disability, including
wheelchair use, and ultimately requiring dependent care. Currently, there is no treatment
available for GNE myopathy. N-acetyl-D-mannosamine monohydrate (ManNAc), the first
committed precursor for the biosynthesis of Neu5Ac (sialic acid), and a substrate of the GNE
enzyme defective in GNE myopathy, is being developed for this orphan indication. A first-in-
human Phase 1 trial has been completed and an Open-Label Phase 2 trial is ongoing. We
propose a randomized, double-blinded, placebo-controlled trial to evaluate the efficacy and
safety of ManNAc in subjects with GNE myopathy. We hope that this study will inform future
trials and will eventually lead to FDA approval for ManNAc in GNE myopathy. The primary
efficacy endpoint and design of our proposed multicenter trial in 50 GNE myopathy subjects is
based on knowledge collected for 5 years as part of an ongoing natural history study
(NCT01417533; PI: Dr. Nuria Carrillo) which led to the development of the GNE Myopathy
Disease Progression Model. This disease progression model is a novel tool that has allowed
the design of a trial that overcomes the challenges of determining treatment effect in this rare
and slowly progressive disease. The disease progression model facililates recruitment of
subjects within a wide range of the disease spectrum, increasing the generalizability of our
findings to the patient population. Furthermore, our strategy could be applied to other slowly
progressive muscle diseases. Finally, we hope that our proposed trial and patient recruitment
efforts will increase awareness of GNE myopathy and identification of undiagnosed patients.
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## Key facts

- **NIH application ID:** 10150797
- **Project number:** 5U01AR070498-03
- **Recipient organization:** BRIGHAM AND WOMEN'S HOSPITAL
- **Principal Investigator:** ANTHONY Arnold AMATO
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $1,275,264
- **Award type:** 5
- **Project period:** 2017-09-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10150797

## Citation

> US National Institutes of Health, RePORTER application 10150797, A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Efficacy of ManNAc in Subjects with GNE Myopathy (5U01AR070498-03). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10150797. Licensed CC0.

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