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.
AN ONLINE DIAGNOSTIC TOOL
To check what disease they may have, you can use ALDA Online Diagnostic Tool.
Ultragenyx is sponsoring several studies using aceneuramic acid extended release (AC-ER), as an investigational product for GNE Myopathy.
see the study brochure.
The National Institutes of Health has an ongoing Open Label Phase 2 trial using ManNac and will be starting a Phase 3 trial later this year.
Please encourage your GNEM patients to participate in a registry called the GNEM Disease Monitoring Program (GNEM-DMP).
The 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. For more
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 https://www.genome.gov/27567350/a-natural-history-study-of-patients-with-gne-myopathy/