Nationwide Children’s Dr. Chris Pierson and the Foye Family from New Jersey have something in common: a focus on finding new treatments for rare muscle diseases known as centronuclear myopathies.
Centronuclear myopathies describe a group of rare, inherited diseases that cause low muscle tone, muscle weakness and often diminished respiratory capacity, so much so that patients are often partially or totally ventilator dependent. Dr. Pierson, a faculty member in the Center for Childhood Cancer at The Research Institute, studies a type of centronuclear myopathy known as X-linked myotubular myopathy.
The Foyes have invested in the idea that Dr. Pierson’s research could one day bring forth new therapies for centronuclear myopathies, a condition that their 9-year-old year old son, Adam, lives with. “When Adam was diagnosed, the doctors were at a loss as to how to help him. They told us there was no treatment, but that we could enroll him in research,” said Adam’s mother, Sarah Foye.
Over the past several years, the Foyes have raised $15,500 to support Dr. Pierson’s research into centronuclear myopathy and myotubular myopathy. A portion of the Foyes’ funding enabled Dr. Pierson to perform preliminary studies using a gene therapy approach to strengthen muscles in myotubular myopathy. “Research has shown that children with myotubular myopathy who have larger muscle fibers tend to do better than those with smaller muscle fibers. So, one possible therapeutic approach would be to make muscle fibers bigger.”
In collaboration with Brian Kaspar, PhD, principal investigator in the Center for Gene Therapy at The Research Institute, Dr. Pierson used a gene therapy strategy to deliver a naturally occurring protein, called follistatin, to the muscles of myotubular myopathy mice. Preliminary data showed that follistatin delivery was able to increase muscle size in these models.
Dr. Pierson says funding to obtain preliminary data such as these is essential. “No matter how great a research idea is, it will never materialize into something tangible to patients if preliminary studies demonstrating its validity to larger funding agencies can not be performed,” he said. “So, if a research idea is good, a little bit of funding early in the process can go a long way.”
In January, Dr. Pierson was able to parlay the preliminary data the Foyes helped fund into a three-year, $257,000 grant from the Muscular Dystrophy Association. “We will now be able to examine whether follistatin can strengthen respiratory muscles, improve respiratory function, and increase survival,” said Dr. Pierson. “We’ll also be able to explore a vascular treatment approach that could help deliver the gene to multiple muscles throughout the body.”
The connection has also helped Dr. Pierson expand his collaborations. He is now working on developing preclinical studies with Dr. James Dowling, a neurologist at the University of Michigan Health Systems, whom Dr. Pierson met at a centronuclear myopathy family conference at which he was invited by the Foyes to speak.
Yet, Dr. Pierson says having a connection to people like the Foyes is more than professionally rewarding; it’s also personally rewarding. “I’m motivated by the fact that I’m studying a disease that is similar to what the Foye’s son has and I also keep him in my thoughts as I work each day,” he said.
“Dr. Pierson’s research is so important,” said Sarah. “To have someone so personable and smart be focused on research that directly affects our family is a treasure.”