Condition or Therapy: Duchenne muscular dystrophy (DMD)
Category: Rehabilitation Medicine

What is the goal of this study?

We want to see what effect an investigational drug called eteplirsen has on the functional abilities of ambulatory boys with Duchenne muscular dystrophy (DMD). Eteplirsen is a drug that was developed to "skip over" exon 51, allowing for the production of a partial dystrophin protein in boys with specific genetic mutations. The dystrophin protein is absent in boys with DMD, causing muscle weakness.

Who can join the study?

This study might be a good fit if your child: 

  • Is a boy age 7-16 years
  • Has been diagnosed with DMD
  • Has a known out-of-frame genetic mutation amenable to exon 51 skipping 
  • Is on a stable dose of steroids

We are also enrolling boys to be in an untreated control group. This might be a good fit if your child: 

  • Is a boy age 7-16 years 
  • Has been diagnosed with DMD
  • Has an out-of-frame genetic mutation amenable to skipping another exon

Boys who participate in both groups must be able to perform a consistent 6-minute walk test with a distance of greater or equal to 300 meters. They should not use BiPAP at night and not have plantarflexion contractures greater than 10 degrees.

What happens in the study?

If you choose to take part in the study, your child would come in for study visits where we would: 

  • Give weekly infusions of the drug eteplirsen for at least 48 weeks. Boys who successfully complete this treatment phase can participate in an additional 48-week extension trial. If your child is assigned to the control group, he will not receive drug infusions and will remain untreated while enrolled in this study.
  • Those assigned to the group that will receive drug infusions require two surgical muscle biopsies performed at another institution. 

Boys in both groups must be willing and able to participate in the study functional and safety testing including: 

  • Laboratory tests
  • Pulmonary function tests
  • Echocardiograms (ECHO)
  • Electrocardiograms (ECGs)
  • 6-minute walk test
  • A lower extremity functional test (NSAA)
  • 10-meter walk/run, 4-stair climb, and 9-hole peg test
  • Strength testing using a handheld measurement device

These assessments are performed during a two-day visit at screening, baseline and weeks 12, 24, 36, 48, 72 and 96.

Who can I contact for information or to enroll?

Email our research coordinator.

Study Location(s): Seattle Children's Hospital main campus
Principal Investigator: Dr. Susan Apkon