Two decades ago, boys with Duchenne muscular dystrophy, the most common and lethal form of the disease, regularly died in their teens and early 20s. Today, they are living beyond that and into adulthood.
The phenomenon is a testament to the quality of care delivered at centers like Johns Hopkins’, one of the most comprehensive of the Muscular Dystrophy Association’s 225 hospital-affiliated clinics. The Hopkins MDA Clinic treats numerous neuromuscular disorders, but the volume of those with some form of muscular dystrophy—nearly 1,300 patients are seen in clinic every nine months—is exceptional.
In the MDA Clinic, the focus is on maximizing available treatments and developing new ones. “We are doing well in increasing quality of life and longevity, as exemplified by our large adult Duchenne population,” says Kathryn Wagner, co-director of the MDA Clinic. With so many Duchenne patients “aging out” of the pediatric clinic, Wagner added an adult clinic to serve this emerging patient population. That’s made Hopkins one of few centers nationwide with clinics for both children and adults.
As boys, these patients benefited from aggressive, proactive care. As soon as they developed scoliosis, for example, they were operated on. As soon as they needed a device—be it a walker, special bike or wheelchair—they got one. Many centers, says Tom Crawford, MDA Clinic co-director, all but give up when patients are “confined to a wheelchair,” the term he dislikes most. “Kids with muscular dystrophy are confined by their disease. They’re liberated by the wheelchair.”
Sometimes, Crawford says, “patients’ lives are wasted as people try to fix what’s broken and have patients do what they simply can’t do. At Hopkins, we’re particularly skilled at optimizing what they can do.”
Duchenne patients in the adult clinic are the first generation to have spent their entire lives taking steroids, Wagner says. (First reported by Hopkins neurologist Daniel Drachman in 1974, the use of prednisone for Duchenne now is the standard of care worldwide.) “They are almost completely quadriplegic, so our focus is on preserving every precious function, like the flicker of movement in a finger to operate a wheelchair or a computer keyboard,” says Wagner.
Neurologists in the MDA Clinic collaborate with pulmonologist Noah Lechtzin, cardiologist Daniel Judge and genetics counselor Nicole Johnson, all expert in treating muscular dystrophy’s significant complications. “The multidisciplinary approach,” says Wagner, “has brought success in extending life span and quality of life.”
For information: MDA Clinic: 410-955-6484, or
www.hopkinsneuro.org/muscular_dystrophy |
Kathryn Wagner and Tom Crawford, here with a young patient, direct Hopkins’ huge muscular dystrophy clinic.
A Clinical Trial for Adult MD
Don Burke was overjoyed when he heard the news. The northern Virginia resident who has
a form of muscular dystrophy called facioscapulohumeral MD, (FSH), that affects the face and shoulder muscles, had learned that Johns Hopkins was conducting a clinical trial testing an
inhibitor of myostatin, a protein discovered here in 1997 which limits muscle growth.
Very few trials have been conducted for muscular dystrophy that begins in adulthood; none have involved new treatments. “People were extremely enthusiastic about participating,” says Kathryn Wagner, principal investigator of the Johns Hopkins site of the multicenter trial.
The drug or placebo was administered intravenously every two weeks for six months. The drug was found to be safe and well tolerated but did not demonstrate an improvement in function. “We were disappointed that this drug did not make a dramatic difference in strength and quality of life,” says Wagner.
Still, the experience has shown how to conduct studies on diseases that never had a large clinical trial before. Trials with more powerful myostatin inhibitors and other stimulators of muscle growth are under consideration; a trial for myotonic muscular dystrophy now is underway at Hopkins, says Wagner. “We’re focused on developing near-term treatments for muscle disease.”
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