We recently talked about the development of Stanford’s new Center for DM Care and Research with Dr. John Day, Professor of Neurology & Neurological Sciences and Director of the Division of Neuromuscular Medicine and Neuromuscular Clinics at Stanford University. Here are the highlights.
Stanford's New DM Center Focuses on Care & Research
You moved to Stanford a year ago after almost 20 years at the University of Minnesota. Tell us about the opportunities you saw in creating Stanford’s new comprehensive center for DM care and research.
Despite my tremendous respect for the great team at the University of Minnesota, I couldn’t pass up the opportunity to integrate Stanford’s internationally recognized research capabilities with the unmet needs of thousands of California DM families. In the last year we’ve established a comprehensive approach to DM care and research with the overall goal being to clarify the underlying mechanisms and treatment of DM more clearly while optimizing its care – our heightened insight into disease mechanisms is helping us define new tests and treatments. This approach requires that we integrate research and clinical care – they are two sides of the same coin: to assure interpretable research, all participating patients must have comparable, comprehensive and optimal care; to optimize patient care we must define the underlying disease and response to treatment with precise clinical research.
Providing comprehensive care means that we’re meeting all the needs of patients and families. Since DM, more than any other inherited disease, affects all organ systems, our center has forged strong connections with cardiologists and pulmonologists, as well as with psychiatrists (for autism-like symptoms, executive function difficulties and sleep problems), gastroenterologists, endocrinologists, ophthalmologists, dermatologists and others.
We are also committed to meeting the needs of the entire family. Adequate care for children requires that parents have their needs met, and vice versa. Furthermore, since we are striving to assist DM families from all of California and around the country, coordination of care for all affected family members traveling to Stanford is an essential part of our mission. Furthermore, reiterating my previous statements about the inter-relatedness of clinical care and research, we realize that understanding DM in adults requires that we understand its affects in children, and treating children appropriately requires that we can anticipate the changes they will experience as adults.
What was the impetus for the Center?
Much of the medical community, not to mention society in general, is painfully unaware of the consequences and treatment of DM. Many people know about muscular dystrophy in a generic sense, but not of DM in particular. Furthermore, all too many people think that all forms of muscular dystrophy are alike. However, unlike forms of muscular dystrophy that only and predictably alter muscle function, DM is highly variable in the type and severity of its complex effects and their time course.
One of our primary goals is to increase awareness because DM has been sorely overlooked given its frequency of occurrence. In some populations, DM affects 1 in every 1000 people; even very conservative estimates (likely to be underestimates) indicate that in the United States at least 1 in every 7000 people is affected. To put that in context, it means that in California, for example, there are between 5000 and 38,000 people with DM, and in the USA there are between 45,000 and 314,000 affected individuals – not exactly rare! It is a big undertaking to identify and treat the myriad effects of DM in this many people, but the closer we get to a definitive treatment the more we can do.
Will there be separate centers for children and adults?
At Stanford, there’s one hospital for adults (Stanford Hospital and Clinics) and another for children (the Lucile Packard Children’s Hospital at Stanford) and we have integrated them both into our combined and comprehensive Neuromuscular Program. While our efforts to streamline the interaction of the two hospitals is ongoing, the fact that the Department of Neurology includes both pediatric and adult neurology services, and that many of us work at both of the hospitals, has allowed us to already successfully launch our combined program for patients of all ages. Because DM affects multiple generations of a family, often in very different ways, we strongly believe that optimal care requires that we coordinate care for all affected family members.
What’s the current status of the Center?
We’ve been seeing patients at both the pediatric and adult clinics for more than one year, and have excellent teams in place including occupational, physical, speech and respiratory therapists, genetic counseling, social work and other key providers in addition to an expanding team of highly trained pediatric and adult neuromuscular neurologists. Also, we have multiple trials underway to define the effects of DM, and to develop treatments that will either alleviate symptoms or directly control the underlying disease.
Is the Stanford Center connected with other Myotonic Dystrophy investigators and clinicians around the world?
Absolutely. For example, For example, Stanford is part of the newly-established DM Clinical Research Network that also includes the University of Rochester, University of Kansas, Ohio State University and the University of Florida, and is supported by the Myotonic Dystrophy Foundation, the MDA and others. Stanford will participate in investigations undertaken by this network later this year. Furthermore, we have ongoing collaborations with investigators throughout the world, strongly subscribing to the view that we can more rapidly conquer DM if we work together. For example, we are working with the Myotonic Dystrophy Foundation to develop a tissue repository, sharing specimens from DM patients with investigators around the world.
What are some of your current priorities?
We strongly believe we can maximally impact research by aggressively optimizing clinical services, and that we can most improve DM clinical care by participating in multifaceted and cutting edge clinical and basic research. Clinical care, clinical research, basic research, education and outreach are all essential and inter-related elements of our attack on this disorder. Part of the road to success includes working with a large enough number of patients so that our research is efficient and precise. Because DM is so complicated everyone who has it is different. Consequently, the more patients we work with, the more able we are to compare research findings in similarly affected patients, improving the precision of our studies and thus our ability to understand the disease and validate its treatments. Since we are providing state-of-the-art clinical care, by professionals who understand this complicated disease, we are eager to help large numbers of DM families, which will increase the power of our research, so that we can further improve clinical care in a reiterative positive feedback cycle.
The starting point of the Stanford Neuromuscular Program is providing comprehensive state-of-the-art clinical care for all aspects of the most complex genetic disease known – DM. This will also allow us to provide a unique and powerful platform for ground-breaking research on DM treatment and care, taking full advantage of Stanford’s prowess in basic science. We can only successfully combat, and ultimately conquer DM by working arm-in-arm with the DM community – a partnership to which we are fully committed. We share common goals for combatting and ultimately conquering DM that we strongly believe can only be accomplished by working together.