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

Description

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

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Study Overview

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Study Details

Study overview

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/

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

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

Condition
GNE Myopathy
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

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.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • 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.

Ages Eligible for Study

4 Years to 80 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

National Human Genome Research Institute (NHGRI),

Francis Rossignol, M.D., PRINCIPAL_INVESTIGATOR, National Human Genome Research Institute (NHGRI)

Study Record Dates

N/A