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

This study has been completed.
Asklepios Biopharmaceutical, Inc.
Information provided by (Responsible Party):
Jerry R. Mendell, Nationwide Children's Hospital Identifier:
First received: January 26, 2007
Last updated: February 4, 2013
Last verified: February 2013
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 Intervention Phase
Duchenne Muscular Dystrophy Biological: rAAV2.5-CMV-minidystrophin (d3990) Phase 1

Study Type: Interventional
Study Design: 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

Resource links provided by NLM:

Further study details as provided by Jerry R. Mendell, Nationwide Children's Hospital:

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

Enrollment: 6
Study Start Date: March 2006
Study Completion Date: July 2010
Primary Completion Date: March 2009 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
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.

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.

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
  Contacts and Locations
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Please refer to this study by its identifier: NCT00428935

United States, Ohio
Columbus Children's Hospital
Columbus, Ohio, United States, 43205
Sponsors and Collaborators
Nationwide Children's Hospital
Asklepios Biopharmaceutical, Inc.
Principal Investigator: Jerry R. Mendell, MD Nationwide Children's Hospital
  More Information

Additional Information:
Responsible Party: Jerry R. Mendell, Director Center for Gene Therapy, Nationwide Children's Hospital Identifier: NCT00428935     History of Changes
Other Study ID Numbers: CCRI IRB05-00118
Study First Received: January 26, 2007
Last Updated: February 4, 2013

Keywords provided by Jerry R. Mendell, Nationwide Children's Hospital:
Muscular Dystrophy
Gene Therapy
Adeno-Associated Virus

Additional relevant 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 processed this record on September 21, 2017