Status:
RECRUITING
A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Collaborating Sponsors:
Therapeutics for Rare and Neglected Diseases (TRND)
Conditions:
GNE Myopathy
GNE Related Diseases
Eligibility:
All Genders
4-80 years
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...
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 ...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Age 4-80 years, either gender, inclusive.
- 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.
- Subjects that are a carrier family member of a patient on the study are eligible to participate.
- Must be able to provide informed consent.
- EXCLUSION CRITERIA:
- Psychiatric illness or other diseases that would interfere with the subject s ability to comply with the requirements of this protocol.
- 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.
- Presence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease not related to the primary disease process.
Exclusion
Key Trial Info
Start Date :
September 14 2011
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
Estimated Enrollment :
125 Patients enrolled
Trial Details
Trial ID
NCT01417533
Start Date
September 14 2011
Last Update
November 24 2025
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892