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Diagnostics Aids & Clinical Trials


                                                        What Is GNE Myopathy?

Do you see patients with foot drop? Weakness in the pincer grip? If so, they may have GNE Myopathy. GNE Myopathy (GNEM) is a severe muscle disease that affects adults.  A deficiency of an enzyme (GNE/MNK) causes GNE Myopathy. In people with this deficiency, their bodies cannot complete the first step of sialic acid biosynthesis needed for the modification of proteins and fats. The first symptom of GNEM is often foot drop, which is when lifting the front part of the foot becomes difficult, so the front of the foot is dragged on the ground when walking. As additional muscles become affected by GNE Myopathy this leads to difficulties climbing stairs or getting up from a sitting position, and weakness of the hands and shoulder muscles. People with GNEM typically start to show muscle weaknesses around 20 to 30 years of age. Over the following 10 to 20 years, many people with GNEM progressively lose muscle abilities and may eventually require a wheelchair. GNE Myopathy is also known as Hereditary Inclusion Body Myopathy (HIBM), Distal Myopathy with Rimmed Vacuoles (DMRV) or Nonaka Myopathy.


To check what disease they may have, you can use ALDA Online Diagnostic Tool. 


The National Institutes of Health has an ongoing Open Label Phase 2 trial using ManNAc and will be starting a Phase 3 multi-center trial later this year.

Here is the website that describes the study: it includes the points of contact at each site. Here is the one for Columbia University, which will be the site in NYC:

Ultragenyx sponsored several studies using aceneuramic acid extended release (ACe-ER -UX001), as an investigational product for GNE Myopathy. These studies are being terminated due to not showing significant benefit.   According to Dr. E. Kakis, "The Phase 3 study of UX001 which failed to demonstrate efficacy in treatment of GNE myopathy. We did not confirm the benefit in maintaining the arm strength of subjects treated with Ace-ER as we had expected from our Phase 2 study. If there was any effect, it was small and the other endpoints did not provide any supporting evidence for efficacy. Safety was acceptable as previously observed. We can tell that the patients were taking the drug by their serum sialic acid levels. I believe the Ultragenyx clinical team designed and conducted a high-quality study but the treatment effect was unfortunately, not confirmed."


NDF Patient Registry:

Please encourage your GNEM patients to participate in our patient registry by filling out this online form.

In addition to our registry, patients may want to consider joining the registry at This online registry collects information from GNE Myopathy patients worldwide to track the progression of the disease at several points

(at registration, six months, 12 months and yearly up to 15 years). Participating in this study will help physicians understand more about

how GNE Myopathy affects the body and their quality of life over time. It will also help researchers develop potential treatments. The study is also listed at

A Natural History Study of Patients with GNE Myopathy

The National Institutes of Health is conducting a natural history study  whereby they collect genetic and medical information from people

with GNE Myopathy. Patients are followed over time to understand the symptoms and clinical course of GNE Myopathy. This information

is essential to prepare clinical treatment trials.  Please encourage your GNEM patients to participate in this study. For more information

and to participate, visit




Click the image below for a detailed and comprehensive explanation of GNEM (HIBM)