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GNE Related Diseases clinical trials

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

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NCT ID: NCT01417533 Recruiting - GNE Myopathy Clinical Trials

A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases

Start date: September 14, 2011
Phase:
Study type: Observational

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/