Our innovative approach
In our Neuromuscular Program at Children’s Hospital Boston, we closely tie our clinical care to the latest developments in research. A great deal of this research is going on right here at Children’s.
The genetic and molecular basis of many neuromuscular diseases was discovered at Children’s. In the mid 1980s, Louis M. Kunkel, PhD and his colleagues identified the gene and encoded protein, dystrophin, that are altered in children with Duchenne and Becker muscular dystrophy. His lab later found genes in which mutations cause limb-girdle muscular dystrophies. Today, his laboratory is looking for new treatments for muscular dystrophies.
Since the late 1990s, Alan H. Beggs, PhD has identified several genes that cause congenital myopathies, and they’re continuing to look for more. In 2008, Children’s opened the Manton Center for Orphan Disease Research to conduct research aimed at finding new ways to diagnose and treat congenital myopathies and other rare diseases.
Emmanuela Gussoni, PhD, Kunkel and other Children’s researchers are working to develop stem cell therapies for muscular dystrophy and other neuromuscular diseases. An overview of these efforts is given at the Muscular Disorders page of the Children’s Stem Cell website and in a post on Children’s research and innovations blog Vector.
Basil Darras, MD and Peter Kang, MD, neurologists in our clinical Neuromuscular Program, are working with these laboratories to identify new genes responsible for neuromuscular disorders and to develop new treatments. We hope that as potential treatments are found in the laboratory, we can quickly move them into clinical trials for our patients.
Children’s is a major site for clinical studies on spinal muscular atrophy and muscular dystrophy. In 2008, physicians in the Neuromuscular Program founded the Children’s Hospital Boston MDA Clinical Research Center, one of five sites in the United States funded by the Muscular Dystrophy Association to conduct multi-center clinical studies on muscular dystrophy.
Even if we don’t have a clinical trial that your child can participate in now, we will place his name in our Children’s Neuromuscular Program database so that if he becomes a candidate for one of our clinical trials, we can contact you to see if you would like to participate.
Participating in our clinical research is completely optional, and our care of your child will never be affected if you decline to enroll him in a study. If you are interested in participating in a study, we will take care to fully explain all elements of the treatment plan prior to the start of the trial, and you may remove your child from the study at any time.
You can search for clinical studies throughout Children’s here.
To learn more
Several of our patients are featured in this article on rare congenital myopathies from the spring 2009 issue of Vector, a Children’s publication about our research. The article describes the research of Alan Beggs, PhD. And an interactive feature narrated by Beggs gives an in-depth picture of how muscles contract. The interactive concludes with a video of Beggs discussing congenital myopathies.
If you want to learn more about how stem cells work and the history of research on them, explore the Children’s Stem Cell website.