This study will evaluate the antibiotic gentamicin for treating patients with muscular
dystrophy caused by a specific genetic abnormality known as a nonsense mutation. In studies
of mice with this type of muscular dystrophy, gentamicin treatment produced positive changes
in muscle tissue.
Patients with Duchenne or Becker muscular dystrophy caused by nonsense mutations by may be
eligible for this 2-week study. Before starting treatment, patients will have evaluations of
muscle strength and general well being. Two muscle tissue samples will be taken by needle
biopsy, under local anesthetic and sedation. Because of potential risks of hearing loss and
kidney toxicity associated with gentamicin, patients will also have a hearing test and blood
and urine tests for kidney function before starting treatment. (Currently, gentamicin is
commonly prescribed for serious infections of the lungs, heart, and digestive and urinary
tracts; adverse effects of hearing loss and kidney toxicity can occur with excessively high
drug doses.)
Patients will be hospitalized during drug treatment. Gentamicin will be given intravenously
(through a vein) once a day for 14 days. Blood samples will be collected daily to monitor
drug levels and determine dosage adjustments, if necessary. Urine samples will be collected
to assess kidney function. Hearing tests will be done on days 7 and 10.
On the last day of the study, hearing, kidney function, and muscle strength will be tested
and the results compared with pre-treatment levels. Blood and muscle samples will also be
taken again for pre-treatment comparison. Hearing, blood, urine, and muscle strength tests
will be repeated one month after treatment ends for comparison with previous results.
Phase:
Phase 1
Details
Lead Sponsor:
National Institute of Neurological Disorders and Stroke (NINDS)