Six Month Study of Gentamicin in Duchenne Muscular Dystrophy With Stop Codons

This study has been completed.
Information provided by (Responsible Party):
Jerry R. Mendell, Nationwide Children's Hospital Identifier:
First received: March 21, 2007
Last updated: March 22, 2012
Last verified: March 2012

The purpose of this study is to determine the safety of giving intravenous (IV) gentamicin to boys with Duchenne muscular dystrophy who have stop codon mutations.

Condition Intervention Phase
Duchenne Muscular Dystrophy
Drug: Gentamicin infusions twice a week for six months
Phase 1

Study Type: Interventional
Study Design: Endpoint Classification: Safety Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: A Six Month Randomized, Clinical Trial of Gentamicin in Duchenne Muscular Dystrophy Subjects With Stop Codon Mutations

Resource links provided by NLM:

Further study details as provided by Nationwide Children's Hospital:

Primary Outcome Measures:
  • In this phase 1 clinical trial, safety will be measured via gentamicin trough levels, audiology, and renal function tests. These lab tests will remain in the normal range while infusing gentamicin twice a week for 6 month. [ Time Frame: 6 months ] [ Designated as safety issue: Yes ]

Secondary Outcome Measures:
  • Determine if gentamicin given over six months improves muscle strength. [ Time Frame: 6 months ] [ Designated as safety issue: No ]
  • Determine if gentamicin given over six months increases dystrophin binding at the muscle membrane. [ Time Frame: 6 months ] [ Designated as safety issue: No ]

Enrollment: 12
Study Start Date: March 2007
Study Completion Date: July 2009
Primary Completion Date: July 2009 (Final data collection date for primary outcome measure)
Intervention Details:
    Drug: Gentamicin infusions twice a week for six months
    Gentamicin infusions twice a week
Detailed Description:

The primary purpose of this second cohort is to see if the IV Medication, gentamicin, is safe to give twice a week for six months to boys with Duchenne muscular dystrophy (DMD). Secondarily, we want to know if gentamicin can help strengthen the muscles of boys with DMD who have a particular type of genetic mutation known as a stop codon. The gentamicin is thought to allow for "read-through" of this type of mutation which would allow for the production of dystrophin, a protein which is lacking in boys with DMD.


Ages Eligible for Study:   5 Years to 20 Years
Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Age 5-20 years
  • Duchenne muscular dystrophy documented by written report of stop codon mutation analysis of the dystrophin gene.
  • Subject is capable of cooperating for efficacy and safety testing
  • Absent dystrophin on muscle biopsy
  • Subjects may be untreated, taking prednisone or comparable corticosteroids
  • Subjects taking corticosteroids must be on the same dose for at least 3 months (90 days) prior to the start of the study.

Exclusion Criteria:

  • Known allergy to any aminoglycoside or sulfate compounds
  • Current use of potential nephrotoxic or ototoxic drug
  • Current use of corticosteroids has not been stable for 3 months (90) days
  • Known mutation at nucleotide 1555 in 12S rRNA gene of mitochondrial DNA (predisposes to aminoglycoside hearing loss and commercially available via Athena Diagnostics Lab). This DNA testing (Hearing susceptibility test) will be made available through funding from this grant.
  • Inability to hear within the range of 0 to 25 dB in any hearing frequency by pure tone audiometry
  • Cystatin C equal to or > 1.4mg/L
  • Other medical condition that would impede the conduct of study (e.g., congestive heart failure)
  Contacts and Locations
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Please refer to this study by its identifier: NCT00451074

United States, Arizona
Neuromuscular Research Institute - Scottsdale Healthcare Hopsital at Shea
Scottsdale, Arizona, United States, 85258
United States, Kansas
University of Kansas
Kansas City, Kansas, United States, 66160-0001
United States, Ohio
The Research Institute at Nationwide Children's Hospital
Columbus, Ohio, United States, 43205-2696
Sponsors and Collaborators
Nationwide Children's Hospital
Principal Investigator: Jerry R. Mendell, M.D. The Research Institute at Nationwide Children's Hospital/ Nationwide Children's Hospital
  More Information

Additional Information:
Responsible Party: Jerry R. Mendell, Director, Center for Gene Therapy, Nationwide Children's Hospital Identifier: NCT00451074     History of Changes
Other Study ID Numbers: NS043186, 7R01NS043186
Study First Received: March 21, 2007
Last Updated: March 22, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Nationwide Children's Hospital:
Stop codon mutations

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Muscular Diseases
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Nervous System Diseases
Neuromuscular Diseases
Anti-Bacterial Agents
Anti-Infective Agents
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action
Pharmacologic Actions
Protein Synthesis Inhibitors
Therapeutic Uses processed this record on August 27, 2015