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

NCT01417533 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 78

Last updated 2026-04-20

No results posted yet for this study

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/

Conditions

  • GNE Myopathy
  • GNE Related Diseases

Sponsors & Collaborators

  • Therapeutics for Rare and Neglected Diseases (TRND)

    collaborator NIH

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • William A Gahl, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
4 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2011-09-14

Countries

  • United States

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01417533 on ClinicalTrials.gov