Safety Study of Mini-dystrophin Gene to Treat Duchenne Muscular Dystrophy
Phase 1 Clinical Trial of rAAV2.5-CMV-mini-Dystrophin Gene Vector in Duchenne Muscular Dystrophy
  • Phase

    Phase 1
  • Study Type

  • Status

    Completed No Results Posted
  • Study Participants

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).
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.
Study Started
Mar 31
Primary Completion
Mar 31
Study Completion
Jul 31
Last Update
Feb 05

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.

Low Dose Experimental

Low dose cohort - 2.0E10 vg/kg

High Dose Experimental

High Dose - 1.0E11 vg/kg


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
No Results Posted