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

ClinicalTrials.gov ID: NCT01417533

Public ClinicalTrials.gov record NCT01417533. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.

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ClinicalTrials.gov public records Last synced Sep 9, 2026, 2:23 PM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Brief summary

Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.

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/

Study identification

NCT ID: NCT01417533
Recruitment status: Completed
Study type: Observational
Phase: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Enrollment: 78 participants

Conditions and interventions

Conditions

Interventions

Not listed

Eligibility (public fields only)

Age range: 4 Years to 80 Years
Sex: All
Healthy volunteers: Healthy volunteers not accepted

This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.

Study timeline

Start date: Sep 13, 2011
Primary completion: Not listed
Completion: Not listed
Last update posted: Aug 30, 2026

Started 2011

United States locations

U.S. sites: 1
U.S. states: 1
U.S. cities: 1

Facility	City	State	ZIP	Site status
National Institutes of Health Clinical Center	Bethesda	Maryland	20892	—

Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.

About this trial record page

What this page shows: Public field values for ClinicalTrials.gov record NCT01417533, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
What this page does not do: No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
Where the data comes from: Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
Last refresh: Last update posted Aug 30, 2026 · Synced Sep 9, 2026

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The complete protocol, eligibility criteria, and contact information for NCT01417533 live on ClinicalTrials.gov.

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