First US Trial of DMD Gene Therapy Under Way

by Quest Staff on March 29, 2006 - 10:51am

The first U.S. human gene therapy trial directed at Duchenne muscular dystrophy (DMD) was launched yesterday at Columbus (Ohio) Children's Hospital, the Muscular Dystrophy Association (MDA), Children’s Hospital, and Asklepios Biopharmaceutical Inc. (AskBio) announced today. 

Neurologist Jerry Mendell administered an injection of AskBio’s Biostrophin, which contains a functional gene for the muscle protein dystrophin, into the biceps of Andrew Kilbarger, 8, of Lancaster, Ohio.

Mendell is co-director of the MDA clinic at Columbus Children’s Hospital; professor of pediatrics, neurology and pathology at Ohio State University College of Medicine; and head of the Neuromuscular Research Program and Gene Therapy Center at Columbus Children’s Research Institute. 

“This is a long-awaited step in the overall plan to help kids with muscular dystrophy, especially for those of us who have been involved in clinical trials for many years,” Mendell said. “We are all hopeful that this effort will help guide us toward clinically meaningful results as we move forward with this form of treatment.” 

MDA Director of Research Development Sharon Hesterlee said the 20-year interval between the 1986 identification by MDA-supported researchers of the gene for dystrophin and the 2006 gene therapy trial demonstrates just how difficult it has been to overcome the scientific, technical and regulatory hurdles in this endeavor. 

“In cases like this, we’ve had to move beyond academic institutions, where basic science concepts are developed, and into industry, where concepts can become products,” Hesterlee said. “Asklepios’ willingness to take a big risk allowed us to build this unique coalition of business, academic and nonprofit players. This is a true collaborative effort.” 

Duchenne muscular dystrophy is a genetic disease that begins in early childhood, causes progressive loss of muscle strength and bulk, and usually leads to death in the 20s from respiratory or cardiac muscle failure. DMD occurs when a gene on the X chromosome fails to make the essential muscle protein dystrophin. 

The gene for dystrophin is among the largest known, and miniaturizing it, while retaining the crucial elements of its set of DNA instructions, has been one of the greatest challenges to the field. 

AskBio’s Biostrophin therapy uses a novel combination of advanced technologies, including a miniaturized replacement dystrophin gene and nano delivery technology called Biological Nano Particles. BNP’s are engineered specifically to target and carry the minidystrophin gene to muscle cells. 

Biostrophin is based on 20 years of research by MDA grantees Xiao Xiao at the University of Pittsburgh and Jude Samulski at the University of North Carolina at Chapel Hill. Xiao and Samulski formed AskBio in 2003. 

“After years of encouraging preclinical results, I’m excited that AskBio will soon be able to bring this promising new therapy into the clinic, and look forward with a great deal of optimism to offering this initial step toward hope for the DMD community,” Samulski said. 

Following years of laboratory experiments required by the Food and Drug Administration demonstrating that minidystrophin gene transfer was unlikely to harm and could ultimately benefit muscles affected by DMD, the team was given a green light to proceed with the human trial on March 3. 

The trial will test six boys with DMD, each of whom will receive minidystrophin genes in a muscle of one arm and a placebo in the other arm. Neither the investigators nor the participants will know which muscle got the dystrophin genes. 

After several weeks, an analysis of the injected muscle tissue’s microscopic appearance, as well as extensive testing of the health and strength of the trial participants, will reveal whether gene therapy for DMD is likely to be safe and whether it’s likely to result in persistent production of dystrophin in muscle cells. 

MDA is a voluntary health agency working to defeat more than 40 neuromuscular diseases through programs of worldwide research, comprehensive services, and far-reaching professional and public health education. 

Asklepios Biopharmaceutical Inc. is a private development-stage biotechnology company engaged in the development of novel gene therapy-mediated protein therapies using a proprietary Biological Nano Particle (BNP) technology platform. AskBio’s Biostrophin project is directly supported by a $1.6 million translational grant from MDA. 

Columbus Children’s Hospital ( is a 113-year-old pediatric healthcare network which houses the Department of Pediatrics of The Ohio State University College of Medicine. With nearly 300,000 square feet of dedicated research space, Columbus Children’s Research Institute at Columbus Children’s Hospital ranks among the top 10 in National Institutes of Health research awards to freestanding children’s hospitals in the United States.

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