There are currently no treatments for GNE Myopathy. However, there are two preclinical and clinical trials currently underway that are showing promising potential.

ManNAc

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 August 2021: With their protocol finalized and approved, NIH and the other locations in the United States for the Multi-Center Study of ManNAC for GNE Myopathy (MAGiNE) are busy putting the “finishing touches” on all aspects needed in order to begin enrolling patients. The first of the sites still plan to begin the assessment and enrollment process in August, once all of the final tests on the equipment needed are completed. Click here to learn more about eligibility criteria, outcome measures, and contact information for the site nearest where you live. Patients residing outside of the United States and patients in the U.S. who do not have a site within six hours of their home can contact the team at NIH at GNEMyopathyStudies@mail.nih.gov for information about potential participation.

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