There are currently no treatments for GNE Myopathy.

However, there are two preclinical and clinical trials currently underway that are showing promising potential.


When the GNE epimerase kinase does not function correctly in the human body thereby reducing the available ManNAc, it is reasonable to assume that treatment with ManNAc could assist with improving health benefits. The therapeutic potential for ManNAc is currently being assessed in several diseases, including GNE Myopathy, in which therapy could benefit from its ability to enhance the biosynthesis of sialic acid.

NIH owns related intellectual property for the use of ManNAc to treat GNE myopathy patients and has designed a Phase 2/3 clinical trial to test its safety and efficacy. NDF has supported the NIH through gift funds in support of these efforts and continues to include investigators in its scientific coterie. For more information about this trial please visit.

UPDATE November 2023: NIH are currently assessing ManNAc (MAGiNE) in a multi-center trial. “This is a randomized, placebo-controlled, double-blind, multi-center study to evaluate the long-term safety and clinical efficacy of ManNAc in subjects with GNE myopathy. A total of 51 eligible subjects will be randomized in a 2:1 ratio to receive either ManNAc at 4g three times daily (total of 12 g/day) or placebo. Subjects will have follow-up visits every 6 months (±7 days) and take study drug for a minimum of 24 months, until their final study visit. The final on-site study visit for a subject is the last expected 6-month follow-up visit that occurs prior to the time the last randomized subject is expected to reach 24 months (extended follow-up)”. Click here to learn more about eligibility criteria, outcome measures, and contact information.

Gene Therapy

Gene therapy is a promising treatment option for genetic diseases that have no cure. Gene therapy is used to introduce a normal copy of the gene to restore function to cells. Gene therapy uses a vector, typically a virus that does not cause disease, to deliver the gene to cells in the body.

There is a limited number of approved gene therapies, but the number is expected to increase significantly in the next several years due to advances in the field.

Since 2017, NDF has been facilitating and funding necessary studies required to prepare for gene therapy for clinical trials (testing on humans). We have committed significant resources toward this potential cure. Preclinical studies are needed to show safety and efficacy of gene therapy before clinical trials and to comply with the FDA approval process needed before it is tested in humans as part of a clinical trial.

Cover illustration of the Drug Development Roadmap PDF
Download the Drug Development Roadmap