A Natural History Study of Patients With GNE Myopathy
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT01417533|
Recruitment Status : Recruiting
First Posted : August 16, 2011
Last Update Posted : June 18, 2020
- 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.
- To collect genetic and medical information from people with GNE Myopathy .
- 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.
- 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/
|Condition or disease|
|Study Type :||Observational|
|Estimated Enrollment :||100 participants|
|Official Title:||A Natural History Study of Patients With GNE Myopathy|
|Actual Study Start Date :||September 14, 2011|
Patients with a diagnosis of GNE myopathy
Subjects that are a carrier family member or a caregiver of a patient on the study are eligibleto participate.
- Natural History [ Time Frame: Ongiong ]To delineate the natural history of GNE myopathy, and to further characterize the phenotype, progression and complications of the disease.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01417533
|Contact: Aria Elahi||(301) firstname.lastname@example.org|
|Contact: Nuria Carrillo, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-441-1222 ext TTY8864111010 firstname.lastname@example.org|
|Principal Investigator:||Nuria Carrillo, M.D.||National Human Genome Research Institute (NHGRI)|