View clinical trials related to GNE Myopathy.
Filter by:GNE myopathy, an ultra-rare disease, is a severe progressive myopathy that typically presents in early adulthood as weakness in the distal muscles of the lower extremities and progresses proximally, leading to a loss of muscle strength and function, and ultimately a wheelchair-bound state. The rate of progression is gradual and variable over the course of 10-20 years or longer. There is a need to understand the world wide epidemiology of this ultra-rare condition, better understand a long-term disease course and the progression of disease-specific features, support translational research by evaluating burden illness and support clinical research recruitment. Therefore, the study will longitudinally collect information via an online patient registry platform.
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/