On the cover: Both Andrew Soto, shown here with Freckles, and his older brother Julian, have received diagnoses of Duchenne muscular dystrophy. They live in Tucson, Ariz., with their parents, Lupe and Tim. Dear Friends What are Duchenne and Becker Muscular Dystrophies? What causes Duchenne and Becker muscular dystrophies? What happens to the voluntary muscles of someone with DMD or BMD? What tests are used to diagnose DMD and BMD? What can be done to treat DMD or BMD? In what other ways do DMD and BMD affect the body? Can special diets or exercises help in DMD and BMD? How do families and children adjust to DMD or BMD? The Muscle-Fiber Membrane Does it Run in the Family? MDA's Search for Treatments & Cures MDA is Here to Help You

MDA’s Search for Treatments & Cures

Since 1986, when MDA-funded researchers identified the gene that, when flawed, leads to DMD and BMD, scientists have built on that foundation to better understand the diseases. As of 2007, MDA investigators are pursuing several directions in search of a way to halt or reverse the muscle destruction of these disorders.

MDA-supported researchers have created a working dystrophin gene without the DMD mutation, and they’re now testing its safety in a small clinical trial in boys with the disease.

In another approach, MDA-supported researchers at a biotechnology company are testing PTC124, a drug that changes the way muscle cells “read” genetic instructions, in boys with DMD. In some 15 percent of boys with the disease, a molecular stop signal occurs too early in the DNA instructions for a complete dystrophin protein to be made. It’s this signal that PTC124 coaxes cells to ignore.

Other MDA-backed scientists are experimenting with antisense oligonucleotides, compounds designed to encourage cells to skip over any type of genetic error, not just a stop signal. These compounds are undergoing laboratory testing, and a pilot clinical trial in the Netherlands has shown promising results.

Still other teams of MDA scientists are using stem cells isolated from muscle, blood vessels or bone marrow to regenerate muscles in laboratory models of DMD.

In addition, some groups are testing strategies to increase production of the protein utrophin, which closely resembles dystrophin but is produced normally in people with DMD or BMD. Laboratory evidence shows that increasing utrophin levels can to some extent compensate for a dystrophin deficiency.