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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01417533

Enrollment

Registered

2011-08-16

Start date

2011-09-14

Completion date

Unknown

Last updated

2026-09-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

GNE Myopathy, GNE Related Diseases

Keywords

Hereditary Inclusion Body Myopathy, Natural History

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/...

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

4 Years to 80 Years

Healthy volunteers

Inclusion 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.

Design outcomes

Primary

Measure	Time frame	Description
Natural History	Ongiong	To delineate the natural history of GNE myopathy, and to further characterize the phenotype, progression and complications of the disease.

Secondary

Measure	Time frame	Description
Endpoints	Ongoing	To identify endpoints and biomarkers of the disease. To study factors that contribute to disease heterogeneity.

Countries

United States

Contacts

PRINCIPAL_INVESTIGATORWilliam A Gahl, M.D.

National Human Genome Research Institute (NHGRI)

Outcome results