A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
Completed
Conditions studied: GNE Myopathy, GNE Related Diseases
In brief
Background: \- GNE Myopathy is a disease that causes walking difficulties and increasing muscle weakness. It usually develops in young adults (between 20 and 30 years of age), and affects arm and leg muscles. HIBM is caused by mutations in a gene that may affect how the muscles function. Researchers want to learn more about the causes, symptoms, and effects of HIBM. Objectives: \- To collect genetic and medical information from people with GNE Myopathy . Eligibility: \- Individuals between 18 and 80 years of age who have GNE Myopathy and do not use a wheelchair. - Participants must be willing to stop any current treatment of HIBM while enrolled in the study. Design: * Participants will be screened with a medical history, physical exam, and neurological exam. * At the first visit, participants will have the following tests: * Questionnaires about the impact of HIBM on daily activities, mood, and quality of life * 24-hour urine collection * Blood samples * Heart function tests * Muscle strength and endurance tests, including walking * Imaging study of the muscles * Participants will return for followup visits at 6, 12, and 18 months. They may be asked to return for a final visit at 24 months. Not all tests will be performed at each visit. * Treatment will not be provided as part of this protocol. For more information, visit our website: http://hibmstudy.nhgri.nih.gov/
Key facts
- Study ID
- NCT01417533
- Run by
- National Human Genome Research Institute (NHGRI)
- People needed
- 78
- Starts
- 2011-09-14
- Last updated by the study team
- 2026-07-28
Who can join
Age: 4 and older, up to 80. Sex: any. Healthy volunteers: not accepted.
You may not qualify if…
- Psychiatric illness or other diseases that would interfere with the subject s ability to comply with the requirements of this protocol.
- Hepatic laboratory parameters (aspartate aminotransferase [AST], alanine aminotransferase [ALT]) or renal laboratory parameters (creatinine, blood urea nitrogen [BUN]) greater than 3 times the upper limit of normal.
- Presence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease not related to the primary disease process.
Where it is running
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States
Full record on ClinicalTrials.gov
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