A Natural History Study of Patients With GNE Myopathy
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|ClinicalTrials.gov Identifier: NCT01417533|
Recruitment Status : Recruiting
First Posted : August 16, 2011
Last Update Posted : May 21, 2020
|First Submitted Date||August 13, 2011|
|First Posted Date||August 16, 2011|
|Last Update Posted Date||May 21, 2020|
|Actual Study Start Date||September 14, 2011|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures
||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.
|Original Primary Outcome Measures||Not Provided|
|Current Secondary Outcome Measures||Not Provided|
|Original Secondary Outcome Measures||Not Provided|
|Current Other Pre-specified Outcome Measures||Not Provided|
|Original Other Pre-specified Outcome Measures||Not Provided|
|Brief Title||A Natural History Study of Patients With GNE Myopathy|
|Official Title||A Natural History Study of Patients With GNE Myopathy|
- 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.
For more information, visit our website: http://hibmstudy.nhgri.nih.gov/...
|Detailed Description||GNE myopathy, previously known as Hereditary Inclusion Body Myopathy (HIBM), or Nonaka Myopathy, is an autosomal recessive myopathy with onset in early adulthood characterized by progressive muscle atrophy and weakness. The causative gene, GNE, encodes for the bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) that catalyzes the rate-limiting step in the biosynthesis of sialic acid (Neu5Ac). The subsequent impairment of Neu5Ac production is presumed to cause decreased sialylation of GNE myopathy muscle glycoproteins, resulting in muscle deterioration. In this protocol, we will clinically evaluate patients with GNE myopathy. To date, the amount of prospectively collected and published natural history data on GNE myopathy has been minimal due to the rare nature of this disease. This natural history study seeks to further characterize the phenotype, progression and complications of the disease. Additionally, the study is designed to identify endpoints and biomarkers for future therapeutic trials|
|Study Design||Observational Model: Cohort
Time Perspective: Prospective
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Non-Probability Sample|
|Study Population||Patients with a diagnosis of GNE myopathy. Subjects that are a carrier family member or a caregiver of a patient on the study are eligible to participate.@@@|
|Publications *||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Original Estimated Enrollment||Same as current|
|Study Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Ages||18 Years to 80 Years (Adult, Older Adult)|
|Accepts Healthy Volunteers||Yes|
|Listed Location Countries||United States|
|Removed Location Countries|
|Other Study ID Numbers||110218
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|IPD Sharing Statement||Not Provided|
|Responsible Party||National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )|
|Study Sponsor||National Human Genome Research Institute (NHGRI)|
|Collaborators||Therapeutics for Rare and Neglected Diseases (TRND)|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||February 12, 2020|