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.
During their first visit, participants will have the following tests:
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.
You will be admitted to the NIH Clinical Center for this study.
You will not receive any direct compensation for your participation.
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.
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.
No it does not. The eligibility criteria for the ManNAc trial might be different from those for this natural history study.
Yes, you need to stop taking ManNAc, sialic acid, IVIG and siallyllactose.
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.
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:
Phone: (301) 827-7746
Fax: (301) 402-0006
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
At the National Institutes of Health Clinical Center in Bethesda, Maryland, USA. For more information, see: https://clinicalcenter.nih.gov/about1.html