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

March 14, 2024 updated by: National Human Genome Research Institute (NHGRI)

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 Overview

Status

Recruiting

Conditions

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.

Study Type

Observational

Enrollment (Estimated)

125

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • Recruiting
        • National Institutes of Health Clinical Center
        • Contact:
          • For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
          • Phone Number: TTY dial 711 800-411-1222
          • Email: ccopr@nih.gov

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

4 years to 80 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

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.

Description

  • 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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
GNE
Patients with a diagnosis of GNE myopathy
GNE-Related Diseases
Patient with a GNE related disease
non-GNE
Subjects that are a carrier family member or a caregiver of a patient on the study are eligibleto participate.

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Human Genome Research Institute (NHGRI)

Collaborators

Therapeutics for Rare and Neglected Diseases (TRND)

Investigators

  • Principal Investigator: Francis Rossignol, M.D., National Human Genome Research Institute (NHGRI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 14, 2011

Study Registration Dates

First Submitted

August 13, 2011

First Submitted That Met QC Criteria

August 13, 2011

First Posted (Estimated)

August 16, 2011

Study Record Updates

Last Update Posted (Actual)

March 15, 2024

Last Update Submitted That Met QC Criteria

March 14, 2024

Last Verified

March 6, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 110218
  • 11-HG-0218

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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