Clinical Trial: A Natural History Study of Patients With GNE Myopathy

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: A Natural History Study of Patients With GNE Myopathy

Brief Summary:

Background:

- Hereditary inclusion body myopathy (HIBM) 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 hereditary inclusion body myopathy.

Eligibility:

- Individuals between 18 and 80 years of age who have hereditary inclusion body 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