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Cincinnati Children’s Announces Major Advancement In Treatment of Duchenne Muscular Dystrophy

Tuesday, October 16, 2012

In what may be the biggest breakthrough in muscular dystrophy in years, a patient at Cincinnati Children’s Hospital Medical Center is believed to be the first in the nation with Duchenne muscular dystrophy to have a device implanted to help his heart pump blood to the body long-term.

Because 80 percent of boys and men with Duchenne muscular dystrophy (DMD), ultimately die of heart failure, the implanted left ventricular assist device (LVAD), could add years or even decades to the lives of patients with DMD.

“This is a major milestone in the care of Duchenne muscular dystrophy,” says John Lynn Jefferies, MD, director of the heart failure and ventricular assist device programs at the Cincinnati Children’s Heart Institute. “This treatment offers the possibility to change the outcome and the lives of these young men in a significant way that has never been realized up until now.”

Due to their severe muscle disease, patients with DMD are not typically candidates for heart transplant and some other treatment options that exist for patients with other muscular dystrophies. Patients with Becker muscular dystrophy, for example, a less severe form of muscular dystrophy caused by the same gene as DMD, have a larger range of treatment options, including transplant and LVADs, which have successfully been implanted in this population. DMD patients often die at a much younger age than patients with Becker muscular dystrophy due to heart failure.

Surgeons at Cincinnati Children’s, led by David Morales, MD, chief of cardiovascular surgery and executive co-director of the Heart Institute, demonstrated the feasibility of using LVADs as an option for Duchenne patients by implanting a Thoratec HeartMate II LVAD into the chest of Jason Williams, 29, a DMD patient from Peebles, Ohio. Williams is hoping not only for an improved quality of life for himself but to be a pioneer in helping all patients with DMD.

“I wanted to live longer with a better quality of life, and help other people – those with Duchenne facing heart failure and death,” says Williams. “I hope that doctors and surgeons can learn from my surgery and my recovery and be able to offer this treatment to other men and boys with Duchenne.”

“Our team is honored to be a part of such a significant event and feels a great sense of gratitude toward Jason and his family for their desire to open new doors to all those with Duchenne,” adds Dr. Jefferies.”

Muscular dystrophy is a group of inherited diseases in which the muscles progressively weaken. DMD affects mostly males, appearing between the ages of 2 and 6. Disease progression varies, but many people with Duchenne need a wheelchair before the age of 12, which was the case with Williams.

Later stages of the disease are characterized by severe difficulty breathing and heart problems. Those with DMD usually die in their late teens or early 20s.

“For these patients, a long-term solution for heart failure would be groundbreaking,” says Jeffrey Towbin, MD, executive co-director of the Heart Institute and chief of pediatric cardiology at Cincinnati Children’s.

“We could perhaps change the natural history of this disease,” says Dr. Morales. “This operation gives Jason the most important thing: hope for a future. He has a lot going for him. In Cincinnati Children’s, he has a broad and deep heart team; a backbone of basic, translational and clinical research working for him; international thought leaders in muscle disease to help manage his care; and institutional leadership that makes advances such as this possible. Most importantly, he has a tremendously dedicated family to support him.”

The Comprehensive Neuromuscular Center at Cincinnati Children’s is dedicated to helping children, adolescents and adults with neuromuscular disorders live better, fuller lives. Directed by Brenda Wong, MD, the Center cares for more than 1,100 children from around the world with a range of neuromuscular diseases. The staff of experts includes such disciplines as pulmonary medicine, cardiology, pediatric rehabilitation, genetics, physical therapy, gastroenterology, nutrition therapy, social services, psychology, neuropsychology, endocrinology, ophthalmology, and orthopaedics.

Despite years of research into DMD and other forms of muscular dystrophy, medical advances have been limited. Perhaps the biggest impact came more than a decade ago, when steroid therapy began to be used extensively to prolong skeletal muscle. Then, in 2005, Drs. Jefferies and Towbin published a study predicting when patients would develop cardiac disease, allowing earlier intervention to occur.

Approximately 2,500 individuals are born around the world each year with DMD. By the age of 21, 100 percent of patients with DMD have dilated cardiomyopathy, a disease of the heart muscle.

Ventricular assist devices are mechanical pumps implanted in the chest to help a weakened heart pump blood to the body. They are often used as a bridge to transplant, delaying the need for transplant until a suitable heart can be located. Although patients with Duchenne are not candidates for heart transplant, this doesn’t mean that assist devices can’t be seen as bridges to more advanced care.

Current research is looking at whether stem cell therapy might be used to increase the heart’s ability to squeeze and better pump blood. Researchers are examining whether bone marrow cells can be injected into the heart and replace cells that are not working properly. Researchers are hoping that VADs can be used until stem cell therapy becomes a reality.

About Cincinnati Children’s

Cincinnati Children’s Hospital Medical Center is third in the nation in U.S.News and World Report’s 2012 Best Children’s Hospitals ranking. It is ranked #1 for neonatology and in the top 10 for all pediatric specialties. Cincinnati Children’s is one of the top two recipients of pediatric research grants from the National Institutes of Health. It is internationally recognized for improving child health and transforming delivery of care through fully integrated, globally recognized research, education and innovation. Additional information can be found at www.cincinnatichildrens.org