A Natural History Study of Patients With Hereditary Inclusion Body Myopathy
- Hereditary inclusion body myopathy (HIBM) 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 hereditary inclusion body myopathy.
- Individuals between 18 and 80 years of age who have hereditary inclusion body 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/
Hereditary Inclusion Body Myopathy
|Study Design:||Time Perspective: Prospective|
|Official Title:||A Natural History Study of Patients With GNE Myopathy|
- The baseline rate of progression of complications and its correlation with age of onset of the disease. [ Time Frame: 0, 6, 12, 18, and possibly 24 months ] [ Designated as safety issue: No ]
- The functional outcome measures (potential endpoints) to be used to test future therapeutic interventions. [ Time Frame: 0, 6, 12, 18, and possibly 24 months ] [ Designated as safety issue: No ]
- The identification of potential serum biomarkers (sialylated as disease markers and the correlation between muscle magnetic resonance imaging (MRI) findings with progression of the disease [ Time Frame: 0, 6, 12, 18, and possibly 24 months ] [ Designated as safety issue: No ]
- The rates of progression for individual subjects. [ Time Frame: 0, 6, 12, 18, and possibly 24 months ] [ Designated as safety issue: No ]
|Study Start Date:||July 2011|
GNE myopathy, also known as Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive neuromuscular disorder with onset in early adulthood characterized by progressive muscle weakness. The causative gene, GNE, codes for the bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE/MNK) that catalyzes the first two steps in the biosynthesis of sialic acid (SA). The subsequent paucity of SA production is presumed to cause decreased sialylation of HIBM muscle glycoproteins, resulting in muscle deterioration. To date, the amount of prospectively collected and published natural history data on HIBM has been minimal due to the rare nature of this disease. This natural history study seeks to further characterize the rate of progression of the disease and how it relates to age of onset. Additionally, the study is designed to elucidate functional outcome measures (endpoints) for future therapeutic trials, and correlate serum biomarkers and muscle magnetic resonance imaging (MRI) findings to progression of the disease.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01417533
|Contact: Nuria Carrillo-Carrasco, M.D.||(301) firstname.lastname@example.org|
|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 Patient Recruitment and Public Liaison Office (PRPL) 800-441-1222 ext TTY8864111010 email@example.com|
|Principal Investigator:||Nuria Carrillo-Carrasco, M.D.||National Human Genome Research Institute (NHGRI)|