Research Update from Team CMT member Dr. Bob Chetlin

Team CMT member Dr. Bob Chetlin

CMT Athletes, CMT Patients, CMT Families, and the CMT Community:

My name is Robert Chetlin. I am an associate professor in the Department of Human Performance and Applied Exercise Science in the West Virginia University School of Medicine. I also hold an appointment in the Department of Neurology at the same institution. For approximately the past 15 years, I have dedicated a significant portion of my time to study the effects of exercise in persons with CMT. Although you do not know me, I have been a supporter and member of Team CMT since its very beginning.

Many of you personally appreciate the benefits of exercise and provide testimonial that regular exercise helps maintain your strength, your endurance, your ability to carry out daily activities, and your quality-of-life.

Some studies we have done provide clear evidence that the muscle of some CMT patients beneficially responds to an exercise stimulus by increasing muscle size (called hypertrophy) and activating some of the proteins known to control muscle growth.

In CMT patients capable of exercise participation, regular exercise and activity reduces the risk of disease associated with a sedentary lifestyle, including type 2 diabetes and heart disease.

In fact, many governmental and non-governmental agencies, namely the United States Department of Health and Human Services, the Office of the United States Surgeon General, the American Medical Association, and the American College of Sports Medicine, all agree that children and adults with chronic disease and disability, whom are capable, should engage in regular forms of exercise and activity. By definition, this would include a very large segment of the CMT patient population.

Despite the official position statements of these multiple nationally and internationally recognized and respected organizations, very few studies (less than two dozen), historically, have examined the effects of exercise in patients with various forms of CMT. As many of you are likely aware, the vast majority of CMT research has, up to this point, focused on discovery; that is, finding out about new types and subtypes of CMT and creating animal models of CMT. Though this type of science, called basic science, is valid and intriguing, CMT patients express little enthusiasm for these types of studies, because it is difficult to see the direct utility and benefit to patients themselves.

When patients I work with ask me how basic science will improve their daily lives, I am literally at a loss for words to provide an adequate explanation. It has been my experience that there exists a very palpable frustration amongst CMT patients today that the scientific community is so enamored with discovery that direct physical (non-surgical) treatment for patients has been relegated to a lower tier of importance. Other (non-physical) interventions have been attempted, namely drugs and nutritional supplements, but these have all failed to demonstrate long-term treatment effectiveness.

A thorough review of the scientific and clinical literature indicates that no drug or nutritional supplement, administered alone or in combination, has effectively treated or cured any degenerative and/or progressive neuromuscular disease or disorder, including CMT – perhaps the most complex and enigmatic neuromuscular disorder known to medical science.

So why haven’t more studies been done to determine precisely how, and for whom, exercise may ultimately benefit CMT patients?

Quite simply, money; comparatively speaking, virtually all public and private funding has been devoted to the basic science of CMT. The result has been fewer physical interventional studies (including exercise), and the generation of smaller amounts of evidence to support regular exercise for capable CMT patients. In addition to defensive medicine, this “lack of evidence” is often cited, anecdotally, as to why many medical professionals advise against regular exercise and activity participation for their CMT patients.

Are there any circumstances or developments that promote a greater emphasis on studies that directly and comprehensively examine the effects of exercise on CMT disease?

Thankfully, that answer is “yes”! This is one of the reasons I have offered to write this narrative: to inform you about some exciting work and promising research on exercise and CMT.

A consortium of basic and clinical scientists has been formed between the National Institute for Occupational Safety and Health (NIOSH), the Max Planck Institute for Experimental Medicine (Gottingen, Germany), and the West Virginia University School of Medicine.

We propose to initially utilize experimental animals genetically modified to have CMT1a (the most common form of CMT), developed at the Max Planck Institute, by exposing them to a very controlled resistance-type exercise program on a machine called a dynamometer, developed at NIOSH. Upon completion of this validated animal exercise protocol, we will examine changes in the proteins, genes, and biochemicals associated with the nerves and muscles of the trained animals, as well as their strength and performance, and compare such change to non-exercising CMT control animals. We will be able to determine the precise effects of exercise from the genetic level to the performance level.

This research model will also allow us to: go back and better refine the exercise program; test animals with other forms of CMT (such as CMT2), and; include drugs or gene therapies with exercise, or both, to determine if the combination of drugs/gene therapies and exercise is more effective than any of these treatments administered alone. Ultimately, this body of evidence will be used to formulate an intervention strategy to be tested in human patients with CMT during Phase II of our research. Phase II will include studying a wide range of the CMT population: from those CMT patients wanting to increase their functional ability and improve the quality of their lives; to CMT athletes training to improve competitive performance, with or without a sport version of the Helios bracing system.

The collaborative, seminal (foundational) research just described is being made possible by the generous support of the Hereditary Neuropathy Foundation (HNF) and Team CMT, a group of CMT athletes and exercise enthusiasts, who, through athletic competition, raise the funds needed to drive this translational project.

Now, what can be done to support this novel research?

Everybody affiliated with the CMT community can help. If you are an athlete or exercise enthusiast with CMT, join  Team CMT and fundraise; the money you raise through athletic competition will go directly toward the described exercise research. If you are a patient with CMT, have a loved one with CMT, or are otherwise involved in the CMT community, join HNF and donate whatever you can; indicate that your donation go directly to support CMT exercise research.

Lastly, here is my pledge to you: I will make myself personally available to answer whatever questions you may have regarding the information provided and what the future of CMT exercise research may hold. Most scientists wouldn’t think of doing this, but changing the direction of CMT research is so profoundly important, I am willing to talk to you directly about our hopes and aspirations. I would also be happy to pass along any questions you may have for our collaborators at NIOSH or the Max Planck Institute for Experimental Medicine. Feel free to e-mail me at: rchetlin@hsc.wvu.edu.

Thank you for taking the time to read this.

Most Sincerely,

Robert D. Chetlin, PhD, CSCS, CHFS

Associate Professor

Department of Human Performance and Applied Exercise Science

Department of Neurology

West Virginia University School of Medicine

PO Box 9139

Morgantown, WV  26506-9139