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GNE Myopathy Clinical Studies at NIH

A Natural History Study of Patients with GNE Myopathy

This study collects 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.

Study Visits

During their first visit, participants will have the following tests:    

  • Muscle strength and endurance tests, including walking
  • Medical history, physical exam and a neurological exam.
  • Questionnaires about the impact of the disease on daily activities and quality of life
  • Blood and urine samples
  • Heart and lung function tests
  • Imaging study of the leg muscles

Participants will return for follow-up visits every 6-12 months. Not all tests will be performed at each visit.

Treatment will not be provided as part of this protocol.


  • Individuals between 18 and 80 years of age who have GNE myopathy confirmed by genetic testing and are able to travel.

Frequently Asked Questions about the Study

Where will I have to go to participate in the study?

You will be admitted to the NIH Clinical Center for this study.

Will I get paid to participate in this study?

You will not receive any direct compensation for your participation.

What are the benefits to participating in this study?

By participating in this study, you will help to improve our understanding of GNE myopathy, which is an important contribution to families and individuals affected by this condition. This study will provide information that will help all clinical trials that explore new therapies for GNE myopathy.

Will travel to the NIH Clinical Center be covered?

Yes, for participants within the United States and Canada. For participants whose home of record is outside the United States and Canada, travel expenses from a U.S. port of entry may be covered. In some instances, NIH will pay for expenses that involve travel from the home of record to the NIH site. NIH will not pay for expenses that involve alternate routes, unnecessary stops or delays.

Does participating in the GNE myopathy Natural History Study mean that I am automatically enrolled in the ManNAc trials?

No it does not. The eligibility criteria for the ManNAc trial might be different from those for this natural history study.

Why should I stop taking any medications while I participate in this study?

Yes, you need to stop taking ManNAc, sialic acid, IVIG and siallyllactose.

I have multiple family members with GNE myopathy, can we all participate?

Yes! As long as each person has evidence of a diagnosis of GNE myopathy and signs informed consent, you may all participate. Furthermore, we can coordinate to bring you and your siblings or friends to the study at the same time.

How do we participate?

You simply need to email or call us if you are interested in participating:

To determine your eligibility, send your medical records, including neurology note and genetic testing results confirming the diagnosis of GNE myopathy to:

Kennan Bradley
Phone: (301) 827-7746
Fax: (301) 402-0006

How do I obtain genetic testing?

Genetic testing is ordered by your physician when he or she suspects that you have GNE myopathy. You can contact us if you have questions. Here is information on how to obtain genetic testing; Genetic Testing Registry

Where will the study take place?

At the National Institutes of Health Clinical Center in Bethesda, Maryland, USA. For more information, see: 

Where can I get more information about GNE myopathy?

Inclusion body myopathy 2 []
GNE Myopathy [] 
Advancement of Research for Myopathies (ARM) []
Neuromuscular Disease Foundation (NDF) []  

Last Updated: March 14, 2017