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

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ClinicalTrials.gov Identifier: NCT01417533
Recruitment Status : Recruiting
First Posted : August 16, 2011
Last Update Posted : October 30, 2020
Sponsor:
Collaborator:
Therapeutics for Rare and Neglected Diseases (TRND)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Brief Summary:

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/


Condition or disease
GNE Myopathy GNE Related Diseases

Detailed Description:
This is a prospective observational study to evaluate patients with GNE myopathy and other GNE-related diseases. The GNE gene encodes for UDP-GlcNAc 2-epimerase/ManNAc kinase, the bifunctional enzyme that initiates and regulates intracellular sialic acid (Neu5Ac) biosynthesis and glycan sialylation. GNE myopathy is a rare, autosomal recessive myopathy with onset in early adulthood characterized by progressive skeletal muscle atrophy and weakness. The impairment of Neu5Ac production is presumed to cause decreased sialylation of muscle glycoproteins, resulting in muscle deterioration. Other GNE-related diseases such as congenital thrombocytopenia have been recently identified, but the pathophysiology is not well understood. In this protocol, we plan to evaluate patients with GNE myopathy and other GNE-related diseases clinically, biochemically, and molecularly to characterize the mechanisms of disease, to delineate the natural history, phenotypes, progression and complications of GNE-related diseases, and to identify endpoints and biomarkers to support clinical trials testing potential therapies.

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Study Type : Observational
Estimated Enrollment : 125 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
Actual Study Start Date : September 14, 2011


Group/Cohort
GNE
Patients with a diagnosis of GNE myopathy
GNE-Related Diseases
Patient with a GNE related disease
non-GNE
Subjects that are a carrier family member or a caregiver of a patient on the study are eligibleto participate.



Primary Outcome Measures :
  1. 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.



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Ages Eligible for Study:   4 Years to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients with a diagnosis of GNE myopathy or GNE-related disease. Subjects that are a carrier family member or a caregiver of a patient on the study are eligible to participate.
Criteria
  • INCLUSION CRITERIA:

    1. Age 4-80 years, either gender, inclusive.
    2. Diagnosis of GNE myopathy or GNE-related diseases based upon the identification of GNE gene mutations. Molecular confirmation of the diagnosis will be obtained for all subjects in the study.
    3. Subjects that are a carrier family member of a patient on the study are eligible to participate.
    4. Must be able to provide informed consent.

EXCLUSION CRITERIA:

  1. Psychiatric illness or other diseases that would interfere with the subject s ability to comply with the requirements of this protocol.
  2. Hepatic laboratory parameters (aspartate aminotransferase [AST], alanine aminotransferase [ALT]) or renal laboratory parameters (creatinine, blood urea nitrogen [BUN]) greater than 3 times the upper limit of normal.
  3. Presence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease not related to the primary disease process.

Information from the National Library of Medicine

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


Contacts
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Contact: Yan Kang (240) 383-2454 yan.kang2@nih.gov
Contact: William A Gahl, M.D. (301) 402-2739 gahlw@mail.nih.gov

Locations
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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    prpl@cc.nih.gov   
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Therapeutics for Rare and Neglected Diseases (TRND)
Investigators
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Principal Investigator: William A Gahl, M.D. National Human Genome Research Institute (NHGRI)
Additional Information:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: National Human Genome Research Institute (NHGRI)
ClinicalTrials.gov Identifier: NCT01417533    
Other Study ID Numbers: 110218
11-HG-0218
First Posted: August 16, 2011    Key Record Dates
Last Update Posted: October 30, 2020
Last Verified: October 27, 2020
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Hereditary Inclusion Body Myopathy
Additional relevant MeSH terms:
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Muscular Diseases
Distal Myopathies
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Muscular Dystrophies
Muscular Disorders, Atrophic
Genetic Diseases, Inborn