First Human Exon Skipping Trial in US Planned for 2010

Trial to begin in March; eligible DMD participants sought

by Quest Staff on October 27, 2009 - 3:36pm

Update (Jan. 23, 2013): As of early 2013, MDA's DMD Clinical Research Network includes these five sites: University of California, Davis (UC Davis); Nemours Children's Hospital in Orlando, Fla.; Washington University in St. Louis; Nationwide Children’s Hospital in Columbus, Ohio; and Children's Medical Center in Dallas. See Help Today, Help Tomorrow is Goal of MDA's Duchenne Clinical Research Network to learn more.

A doctor exams a young boy with DMD.
Exon skipping is an experimental strategy that could help some boys and young men with Duchenne muscular dystrophy produce dystrophin, the muscle protein that's missing in this disease.

The first human trial in the United States of a treatment strategy known as "exon skipping" for Duchenne muscular dystrophy (DMD) is scheduled to begin in March 2010 at Nationwide Children's Hospital in Columbus, Ohio, one of five elite centers comprising MDA's DMD Clinical Research Network.

Neurologist Jerry Mendell, a longtime MDA research grantee and co-director of the MDA Clinic at Nationwide, is the principal investigator.

AVI BioPharma of Bothell, Wash., developed the experimental compound, based in part on findings in the laboratory of MDA grantee Stephen Wilton at the University of Western Australia. (See Exon Skipping Proves Effective.)

Thirty-two boys with DMD who have genetic mutations that may be helped by skipping exon 51 will receive either subcutaneous injections or intravenous infusions of the AVI exon skipping compound for 12 weeks. They must be on site in Columbus, Ohio, to receive these experimental treatments and available to return for five follow-up visits.

The new study has not yet received full regulatory approval and therefore isn't expected to begin until March 2010. However, investigators want to hear from interested participants and can help with genetic testing to determine if an applicant is eligible for the trial.

About DMD

DMD is a degenerative muscle disease caused by any of a number of mutations in the X-chromosome gene that carries instructions for the muscle protein dystrophin. Without dystrophin, muscle fibers are abnormally fragile and break down under the stress of contractions.

About exon skipping and DMD

The regions of genes that carry instructions for proteins such as dystrophin are known as "exons." During the processing of genetic information in cells, these exons are pieced together, while other information (in the form of "introns") is removed. Then, the final instructions are exported from the cell nucleus, at which time the cell can use them to make protein molecules.

Exon skipping compounds in development for DMD use molecules called "antisense" that block (keep cells from "making sense of") erroneous genetic instructions in particular exons. The goal is for the remaining, error-free exons to be spliced together to form the "recipe" for a functional dystrophin protein molecule.

About the new trial

For information, contact study coordinator Laurence Viollet at Nationwide Children's Hospital at (614) 355-2695 or

For more about MDA's DMD Clinical Research Network, see Speeding the Course of Clinical Trials: MDA Clinical Trial Network Gets to Work.

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