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

What this study involves

The registry does not currently label this study as recruiting. Ask about its status before planning a screening visit.

Study type

Observational

Phase

Not applicable / not listed

Age range

4 years - 80 years

Sex eligible

All sexes

Healthy volunteers

Not accepted

Participants

78 Actual

These are starting points, not an eligibility decision. The research team must review the full requirements.

About the research

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/...

Who may be able to participate?

The list below is the sponsor’s full registry wording. It can include conditions, prior treatment, test results and other requirements. A match in search does not mean you qualify.

• 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.

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.

Treatment, groups and participation

The registry may describe treatments and study duration without a complete visit calendar. Ask the study team for the exact schedule, procedures, risks, costs and alternatives. Keep your usual care plan unless your treating clinician tells you otherwise.

Assignment

Not reported

Masking

Not reported

What researchers are measuring

Outcome measures describe what is being studied. They are not proof that a treatment works.

Primary measures

Secondary measures

Research locations (1)

The overall study status and a local site’s status can differ. Confirm that location’s availability before traveling.

1 locations

Study team and timeline

Lead sponsor

National Human Genome Research Institute (NHGRI)

Study start

Sep 14, 2011 Actual

Primary completion

Not reported

Study completion

Not reported

First posted

Aug 16, 2011 Estimated

Last updated

Nov 9, 2026 Actual

Official study contacts

No central contact is listed. Check the locations and the official record.