GNE Myopathy also known as Hereditary Inclusion Body Myopathy is a rare hereditary disorder that causes progressive muscle weakness. Manifestations of the disease usually become apparent between 20 and 30 years of age and slowly involve muscles of the arms and legs. Patients may require a wheelchair approximately 10-20 years after the first symptoms appear.
GNE myopathy results from mutations in a gene called GNE, which produces the enzyme responsible for making a sugar called sialic acid. It is thought that decreased production of sialic acid and its attachment to certain muscle proteins could be the cause of the muscle wasting.
The goal of this research study is to better understand the clinical course and symptoms of GNE myopathy and to develop better tests to measure the progression of the disease. This information will be essential in preparation for clinical treatment trials.To get started:
- Navigate through the menu on your left to learn more about the study.
- Log In the application and fill out questionnaires.
Nuria Carrillo M.D.
Therapeutics for Rare and Neglected Diseases (TRND)
National Center for Advancing Translational Science (NCATS)
National Institutes of Health