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Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy

NCT00195637 · Status: COMPLETED · Phase: PHASE1 · Type: INTERVENTIONAL · Enrollment: 4

Last updated 2019-12-04

No results posted yet for this study

Summary

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.

Conditions

  • Hereditary Inclusion Body Myopathy

Interventions

DRUG

Immune Globulin

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • William A Gahl, M.D. · National Human Genome Research Institute (NHGRI)

Study Design

Purpose
TREATMENT

Eligibility

Min Age
18 Years
Max Age
70 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2005-09-16
Primary Completion
2006-07-03
Completion
2006-07-03

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00195637 on ClinicalTrials.gov