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Center Gives Hope to Muscular Dystrophy Patients

March 31, 2006 at 12:00 AM EST
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JERRY LEWIS, Comedian: Take a look at the tote board. That’s the way to get it going.

SUSAN DENTZER, NewsHour Health Correspondent: The face Americans have linked with muscular dystrophy for decades is that of comedian Jerry Lewis, raising money through his annual telethon. The telethon’s proceeds have long gone to families whose children have the degenerative muscle disease.

ANNOUNCER: Give them all a chance to be what they want to be. Please phone in your pledge now.

SUSAN DENTZER: The money helped pay for the wheelchairs the kids normally needed by age seven or eight, as well as special summer camps. But most of the kids who are helped still died, usually by their late teens or early 20s.

A more hopeful face of muscular dystrophy is that of 8-year-old James Wood. He’s having his muscle strength tested here at Children’s National Medical Center in Washington, D.C.

Unlike kids with the disease from an earlier era, James is thriving, says Dr. Deana Escolar. She’s James’s neurologist at Children’s.

DR. DIANA ESCOLAR, Neurologist: He’s doing fantastic. I think that anybody that will see James will not know that he has muscular dystrophy.

SUSAN DENTZER: And much of the credit for that goes to pioneering research and treatment based here at Children’s. Dr. Elias Zerhouni, director of the National Institutes of Health, calls it a model for biomedical research. That’s because Children’s brings together interdisciplinary teams of doctors and scientists focused on a common problem.

DR. ELIAS ZERHOUNI, Director, National Institutes of Health: It’s very clear now that, to make progress, you need specialists from different disciplines working together on the problem. In other words, instead of having the patient go to the different disciplines, we need all the disciplines to really work and collaborate around the patient as early as possible.

SUSAN DENTZER: Zerhouni wants more of biomedicine to follow this model, so he’s launched a new grant program to encourage more universities and medical centers to reconfigure their research efforts along similar lines.

ERIC HOFFMAN, Scientist: In this case, we’re looking at polymorphisms…

SUSAN DENTZER: At Children’s, doctors work closely with prominent lab scientists like Eric Hoffman. They accelerate new discoveries and then apply them with treating patients with drugs and other therapies.

The cooperative model here was born of necessity, to push research forward faster, and save the lives of more kids. Things looked promising back in 1987 when Hoffman found the gene that mutates to cause the most common form of muscular dystrophy called Duchenne.

The gene is the biggest one in the human body and thus prone to mutations. When the gene mutates, the body no longer produces dystrophin, a critical protein that strengths the walls of muscle cells.

ERIC HOFFMAN: A muscle cell is the only cell in the body you can see with your naked eye. So if you — if you don’t mind the analogy — a chicken breast, which is muscle, if you peel out those very thin threads from the chicken breast, that’s your actual cell of muscle.

SUSAN DENTZER: Hoffman explained that the muscle cell is actually a long tube that needs strong walls to hold itself together.

And when there’s no dystrophin…

ERIC HOFFMAN: Then the walls start falling apart. So, like, to give you an example, if this were actually from a patient with muscular dystrophy, even pulling these cells out like I am, they would fall apart much quicker, because they don’t have that dystrophin holding them together.

SUSAN DENTZER: After Hoffman found the dystrophin gene, hopes ran high that a cure for Duchenne would immediately be found, but that did not happen. Interest in the research and the dollars to support it flagged.

ERIC HOFFMAN: The hype got so out of control with reality, so I got — I became more and more discouraged. And many families and parents did, as well. And so we all, in this coordinated effort, said, “We have to switch this whole ethos, switch this paradigm.”

SUSAN DENTZER: So at Children’s, Hoffman and Escolar launched an effort to continuing probing the basic science of the disease and to translate their findings as rapidly as possible into new standards of care. Patients like James Wood have been the beneficiaries. Joel and Dana Wood are James’ parents.

DANA WOOD, Son Afflicted with Muscular Dystrophy: We had a very perceptive preschool teacher who literally came to us during one of the parent-teacher conferences and said she hadn’t seen a boy in her 20 years of teaching who had such gross motor skill delay as James did. He could barely get upstairs; he had difficulty jumping; he wasn’t going down the slide.

SUSAN DENTZER: Soon, his leg muscles became enlarged, one of the paradoxical first signs of the disease’s muscle-weakening process.

JOEL WOOD, Son Afflicted with Muscular Dystrophy: We were very fortunate that he was diagnosed early. We were able to get him in to a good standard of care, but we were shocked to learn that this is a disease that really have no effective treatments.

ERIC HOFFMAN: We know the disease so well, and it has this very characteristic progression, you know, normal until four, weakness by five, in a wheelchair by seven to 10, and death due to respiratory by the time you’re 20, respiratory failure.

And the respiratory failure is because simply your breathing becomes so inefficient, your heart starts to fail, that you can no longer clear secretions and pneumonia will basically kill you or your heart will fail.

SUSAN DENTZER: But James’ prospects improved immediately at Children’s, where he and other kids undergoing treatment now gets what’s considered state-of-the-art care.

He was put on a corticosteroid drug, prednisone. Research the Children’s team conducted had demonstrated the drug’s effectiveness, even in very young children like James.

James is also enrolled in a clinical trial to test another drug normally used to treat patients with blood circulation problems. It’s hoped the drug will slow formation of scar tissue inside the muscles of Duchenne patients that also contributes to their muscle weakness.

That study is part of another effort organized by the Children’s researchers, a clinical trials network now operating at 24 centers around the world to test new treatments. Dr. Escolar says the hope is to find combinations of drugs that together will vastly extend the life spans of muscular dystrophy patients.

DR. DIANA ESCOLAR: Most likely treatment that will really stop or revert this disorder is going to be a cocktail of medications, like chemotherapy for cancer or the HIV cocktails. You know, you don’t get rid of the problem, but you stop it to the point that people can live normal lives.

SUSAN DENTZER: The Woods, both corporate lobbyists in Washington, have been in a strong position to propel all this work forward. They’ve helped persuade Congress to plow more than $70 million into the research.

JOEL WOOD: As gratifying as it is to have an impact on some of those dollars, the reality is that we’ve had an impact really on the margins of trying to push therapies into the marketplace.

We’re blessed that our son is being treated at the center of the only sophisticated worldwide clinical trials network, and it’s a tragedy that not all kids have the same standard of care.

SUSAN DENTZER: The Woods now hope James’ disease can be held in abeyance long enough that he’ll be able to benefit from more sweeping breakthroughs. A key goal is gene therapy.

Copies of normal dystrophin genes would be inserted into viruses, which would carry the genes to muscle cells, enabling them to produce dystrophin again. Now a gene-therapy trial in kids with Duchenne is getting under way this week at another site on the clinical trials network. No one will be watching the results more closely than the family of James Wood.

JOEL WOOD: I know that they’re going to cure this disease. That’s not being a Pollyannaish dad who just wishes the best for his son; I know it. What I don’t know is if that fix is going to come in time for our own child.

SUSAN DENTZER: Or in time for thousand of other kids fighting the disease around the world.