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

NCT01417533 | Completed

• 2 other identifiers: 11021811-HG-0218
• Study Type: observational
• Target: 78
• Locations: 1 country
• Sites: 1

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/

Conditions

GNE Myopathy; GNE Related Diseases

Keywords

Hereditary Inclusion Body Myopathy; Natural History

Outcome Measures

Primary Outcomes (1)

• Natural History

  To delineate the natural history of GNE myopathy, and to further characterize the phenotype, progression and complications of the disease.

  Ongiong

Secondary Outcomes (1)

• Endpoints

  Ongoing

Study Arms (3)

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.

Eligibility Criteria

• Age: 4 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Age 4-80 years, either gender, inclusive.
• 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.
• Subjects that are a carrier family member of a patient on the study are eligible to participate.
• Must be able to provide informed consent.

You may not qualify if:

• Psychiatric illness or other diseases that would interfere with the subject s ability to comply with the requirements of this protocol.
• 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.
• Presence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease not related to the primary disease process.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead
• Therapeutics for Rare and Neglected Diseases (TRND): collaborator

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (1)

• Liu CY, Yao J, Kovacs WC, Shrader JA, Joe G, Ouwerkerk R, Mankodi AK, Gahl WA, Summers RM, Carrillo N. Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy. Neurology. 2021 Feb 2;96(5):e798-e808. doi: 10.1212/WNL.0000000000011231. Epub 2020 Nov 20.

  PMID: 33219145 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Distal myopathy, Nonaka type

Study Officials

• William A Gahl, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 13, 2011
• First Posted: August 16, 2011
• Study Start: September 14, 2011
• Last Updated: April 20, 2026

Record last verified: 2026-03-26

Locations

US (1)