麻豆果冻传媒

For Release: November 30, 2010

STANFORD, Calif.听鈥� In 2008, Eunice and Andrew Kim were facing a situation that would bewilder any parents: Two expert pediatric surgeons were giving opposing advice about treatment for their daughter.

鈥淭he care that these children receive has been very variable,鈥� said pediatric neurologist听Ching Wang, MD, PhD, who treats Sophie at Lucile Packard Children鈥檚 Hospital Stanford and led the development of the new guidelines. Congenital muscular dystrophies, which affect between one in 20,000 and one in 100,000 births, can impair mobility, breathing, eating, cardiovascular and neurologic function and can markedly shorten patients鈥� life spans. Yet because the diseases are so rare, most general pediatricians and even some neurologists have little experience meeting patients鈥� complex medical needs. The new guidelines will be published in the December issue of the Journal of Child Neurology. 鈥淐linicians often are lost on how to take care of these kids,鈥� said Wang, who is also an associate professor of neurology and neurological sciences at the Stanford University School of Medicine. Children with CMD might need听physical therapy听to improve their mobility, bracing or surgery to compensate for severe scoliosis, a feeding tube to allow them to eat and respiratory support to augment reduced lung function. More than half of patients never learn to walk, or lose the ability to walk as their disease progresses. The standard-of-care guide will help physicians navigate the complex array of treatments.

To develop the guidelines, in 2009 Wang assembled a team of 82 CMD experts from around the world, including Anne Rutkowski, MD, co-founder of Cure CMD, a charitable organization that sponsored development of the new guidelines. Rutkowski, a Los Angeles physician, has a daughter with CMD. The experts surveyed clinicians to assess current treatment practices and reviewed the medical literature for seven areas of CMD care: diagnosis, neurology, pulmonology, cardiology, nutrition/gastroenterology, orthopedics/rehabilitation and palliative care. The team also organized a family survey to see which practices the families of CMD patients found useful and needed. They collated their findings into a large database. The team then met in Brussels in November 2009 to review this database, and combined it with the current literature and their practice experience to achieve consensus on care guidelines and write the final document. Wang anticipates that the new guidelines will enable several improvements in patients鈥� lives. Diagnosing CMD, which usually appears in infancy, often takes longer than necessary, he said. 鈥淲e think the new diagnostic guidelines will save these families the pain of going through unknowns, having test after test, and sometimes still not reaching a diagnosis.鈥�

The Kim family knows firsthand what that pain feels like. Sophie wasn鈥檛 definitively diagnosed until March 2009, when her care team finally identified Ullrich CMD, which interferes with formation of collagen, the connective tissue that stabilizes joints and helps hold muscles together. The disease is so rare that an experienced pediatric neurologist might see one case in a lifetime. 鈥淲e鈥檙e super excited about the standard-of-care document,鈥� said Eunice Kim. Not only could standard-of-care guidelines potentially have sped Sophie鈥檚 diagnosis, they could also have helped clarify the two surgeons鈥� conflicting advice. Children with Sophie鈥檚 diagnosis heal poorly, making surgery a bad choice. The progression of her condition means that Sophie will likely lose the ability to walk within the next year, Kim said 鈥� but her mobility would likely have deteriorated even faster had she gone through surgery.

鈥淒r. Wang鈥檚 recommendation was not to operate,鈥� Kim said, explaining that he helped the family sort through the surgeons鈥� advice. 鈥淭hat was a really great intuitive decision on his part.鈥� The new publication also provides specific guidance about preventive care to slow disease progression. For instance, following the new guidelines, Wang and the听pulmonary team听at Packard Children鈥檚 will soon begin evaluating Sophie鈥檚 breathing to see if she needs respiratory support at night. Weak breathing during sleep, which usually appears long before CMD patients experience daytime respiratory problems, reduces the amount of oxygen a child receives. Proper respiratory support to boost nighttime oxygen levels helps encourage growth and stave off muscle weakening.

In short, the new care guidelines should help patients live the fullest, healthiest lives possible. That鈥檚 important both to physician-scientists and to parents like Kim, who wants the best for her lively little girl. 鈥淪he is an extremely chatty young woman,鈥� Kim said of Sophie, adding that her daughter loves to tell stories, sing and wave at everyone she sees. 鈥淪he has a lot of character.鈥� The guidelines will also help families of CMD patients obtain insurance coverage and will provide a good foundation for advancing the science of CMD treatment. 鈥淭here are several therapeutic targets on the horizon for which therapeutic trials are feasible in the next few years,鈥� Wang said. The new guidelines will provide a uniform baseline treatment that researchers can compare to potential therapies, he added. 鈥淲ithout established care standards, it would be almost impossible to conduct a scientifically valid clinical trial.鈥� In addition to Cure CMD, funds for the project were provided by TREAT-NMD, AFM-Association Francaise contre les Myopathies and Telethon Italy.

Authors

Erin Digitale
(650) 724-9175
digitale@stanford.edu