Jerry Mendell a neurologist, co-director of the Muscular Dystrophy Association (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. He administered an injection of Asklepios Biopharmaceutical Inc (AskBio's) Biostrophin, which contains a functional gene for the muscle protein dystrophin, into the biceps of Andrew Kilbarger, 8, of Lancaster, Ohio.
He initiated the first U.S. human gene therapy trial directed at Duchenne muscular dystrophy (DMD) at Columbus (Ohio) Children's Hospital. It is a long-awaited step in the overall plan to help kids with muscular dystrophy. He said that it is hoped by everyone that this effort will help guide us toward clinically meaningful results as we move forward with this form of treatment. Sharon Hesterlee, MDA Director of Research Development said that it was with great difficulty that this gene therapy trail was possible a sit had to overcome the scientific, technical and regulatory hurdles. The gene for dystrophin was identified in 1986 by MDA-supported researchers.
The transformation was very exciting from the academic institutions, where basic science concepts are developed into the industry, where concepts became products. She also said that it would not have been possible if Asklepios had not taken a big risk of combining business, academic and nonprofit players. 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 at the age of 20 as a result of respiratory or cardiac muscle failure. This is due to the gene mutation on the X chromosome. This results in the failure of the production of the essential muscle protein dystrophin. This gene is the largest known gene. Hence it was with great effort that it was miniatured while retaining at the same time the crucial elements of the DNA.
AskBio's Biostrophin therapy delivers the miniaturized replacement dystrophin gene with the help of Biological Nano Particles (BNP). BNP's carry the minidystrophin gene to muscle cells. The Food and Drug Administration gave the team 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 would confirm the effectiveness of the therapy.