We're building a better ClinicalTrials.gov. Check it out and tell us what you think!
Try the New Site
We're building a modernized ClinicalTrials.gov! Visit Beta.ClinicalTrials.gov to try the new functionality.
ClinicalTrials.gov Menu

Safety Study of Mini-dystrophin Gene to Treat Duchenne Muscular Dystrophy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00428935
Recruitment Status : Completed
First Posted : January 30, 2007
Last Update Posted : February 5, 2013
Asklepios Biopharmaceutical, Inc.
Information provided by (Responsible Party):
Jerry R. Mendell, Nationwide Children's Hospital

Brief Summary:
The purpose of this study is to determine the safety of a miniature dystrophin gene in the treatment of progressive muscle weakness due to Duchenne Muscular Dystrophy (DMD).

Condition or disease Intervention/treatment Phase
Duchenne Muscular Dystrophy Biological: rAAV2.5-CMV-minidystrophin (d3990) Phase 1

Detailed Description:
This phase I randomized double blind dose escalation study investigates the safety and efficacy of the mini-dystrophin gene transferred to the biceps muscle for Duchenne muscular dystrophy patients, ages 5 to 12 years of age, using a recombinant adeno-associated virus. Eligible participants must have a known dystrophin gene mutation and may be concurrently treated with corticoid steroids. The mini-dystrophin gene or a placebo agent (normal saline or empty viral capsids) are injected directly into both biceps muscles while under conscious sedation. Following the gene transfer, patients are admitted to the hospital for 48 hours of observation followed by weekly outpatient visits at the Columbus Children's Hospital Neuromuscular Clinic. A bilateral muscle biopsy is preformed following 6 weeks with long term follow up will consisting of bi-annual visits for the next 2 years.

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 6 participants
Allocation: Randomized
Intervention Model: Single Group Assignment
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Primary Purpose: Treatment
Official Title: Phase 1 Clinical Trial of rAAV2.5-CMV-mini-Dystrophin Gene Vector in Duchenne Muscular Dystrophy
Study Start Date : March 2006
Actual Primary Completion Date : March 2009
Actual Study Completion Date : July 2010

Arm Intervention/treatment
Experimental: Low Dose
Low dose cohort - 2.0E10 vg/kg
Biological: rAAV2.5-CMV-minidystrophin (d3990)
Recombinant adeno-associated virus (AAV) carrying a truncated human dystrophin gene (mini-dystrophin) expressed from a cytomegalovirus (CMV) promoter.

Experimental: High Dose
High Dose - 1.0E11 vg/kg
Biological: rAAV2.5-CMV-minidystrophin (d3990)
Recombinant adeno-associated virus (AAV) carrying a truncated human dystrophin gene (mini-dystrophin) expressed from a cytomegalovirus (CMV) promoter.

Primary Outcome Measures :
  1. Number of Participants with Adverse Events as a Measure of Safety and Tolerability [ Time Frame: followed for 2 years post injection ]
    Physical Exams assessing major organ systems and safety labs (GGT, Bilirubin, Glucose, Amylase, CBC/Diff, AFP, Platelets, PT/PTT, Creatinine, Electrolytes, Total protein, Alkaline phosphatase, and Urinalysis)

Secondary Outcome Measures :
  1. mini-dystrophin gene expression at the site of gene transfer [ Time Frame: 90 days post injection ]
  2. Maximal Volume Isometric Contraction Testing as a measure of muscle strength [ Time Frame: out to 2 years post injection ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   5 Years to 15 Years   (Child)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Known null mutation of the Dystrophin gene
  • Male age of 5 years or older
  • If taking corticosteroids, must have dose unchanged for the past 3 months
  • Serum creatine kinase elevation greater than 10x normal value (established by Children's Hospital)
  • Progressive, symmetrical proximal muscle weakness of arms and legs

Exclusion Criteria:

  • Unable to cooperate for muscle strength testing
  • Joint contractures that prohibit muscle strength testing
  • Concomitant illness
  • Individuals predisposed to excessive vagal responses (bradyarrhythmia or hypotension)
  • Controlled substance abuse

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00428935

Layout table for location information
United States, Ohio
Columbus Children's Hospital
Columbus, Ohio, United States, 43205
Sponsors and Collaborators
Nationwide Children's Hospital
Asklepios Biopharmaceutical, Inc.
Layout table for investigator information
Principal Investigator: Jerry R. Mendell, MD Nationwide Children's Hospital
Additional Information:
Publications of Results:
Other Publications:
Layout table for additonal information
Responsible Party: Jerry R. Mendell, Director Center for Gene Therapy, Nationwide Children's Hospital
ClinicalTrials.gov Identifier: NCT00428935    
Other Study ID Numbers: CCRI IRB05-00118
First Posted: January 30, 2007    Key Record Dates
Last Update Posted: February 5, 2013
Last Verified: February 2013
Keywords provided by Jerry R. Mendell, Nationwide Children's Hospital:
Muscular Dystrophy
Gene Therapy
Adeno-Associated Virus
Additional relevant MeSH terms:
Layout table for MeSH terms
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked