Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy
This study will evaluate patients with Hereditary Inclusion Body Myopathy (HIBM) and examine the effects of immune globulin (IG) treatment on muscle and muscle function. HIBM is a progressive neuromuscular disease that begins in early adulthood, primarily affecting limb muscles. It results from mutations of the gene that is responsible for producing sialic acid, a sugar normally found on the surface of certain proteins, including alpha-dystroglycan, which is involved in muscle function. Some patients with HIBM have decreased sialic acid on the alpha-dystroglycan protein, which may be the cause of their muscle weakness. IG is a protein in the blood that carries a large amount of sialic acid. This study will administer IG to patients with HIBM and determine if the sialic acid in IG is taken up by muscle cells in these patients and if it can restore some of their muscle function.
Four patients with HIBM will be admitted to this study at the NIH Clinical Center for evaluation and IG treatment. The evaluation lasts about 1 month. After completing baseline studies (see below), patients receive two intravenous doses of immune globulin (on days 6 and 7), followed by measurement of muscle strength 2 days later (day 9). They receive additional IG infusions on days 13, 20, and 27. A final set of tests is performed on day 29. Patients may leave the hospital on pass when no studies are being done.
A patient's initial evaluation includes:
- History and physical examination, neurological examination, eye examination
- 24-hour urine collection
- Blood tests on two separate days
- Photographs showing the extent of muscle affected
- Chest x-ray, electrocardiogram (EKG), and echocardiogram
- Two muscle biopsies, one before and one after the IG treatments. For this procedure, a small sample of muscle tissue is surgically removed for examination under the microscope.
- Muscle strength and endurance testing, including the following:
The patient uses pulleys attached to machines that measure the strength of 24 different muscle groups
The patient walks for 6 minutes and performs exercises
To evaluate swallowing, the patient swallows a thick substance called barium
The patient's tongue strength is measured using a specialized instrument.
-Magnetic resonance imaging (MRI) of the muscles of the thigh or calf: MRI uses a magnetic field and radio waves to produce detailed pictures of organs and tissues. During the scan, the subject lies on a table in a narrow cylinder containing a magnetic field, wearing ear plugs to muffle loud noises that occur with electrical switching of the magnetic fields. He or she can speak with a staff member via an intercom system at all times during the procedure.
The neurological and muscle strength and endurance evaluations are repeated on study days 9 and 29.
|Study Design:||Primary Purpose: Treatment|
|Official Title:||Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy|
|Study Start Date:||September 2005|
|Study Completion Date:||July 2006|
|Primary Completion Date:||July 2006 (Final data collection date for primary outcome measure)|
Please refer to this study by its ClinicalTrials.gov identifier: NCT00195637
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||William A Gahl, M.D.||National Human Genome Research Institute (NHGRI)|