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.
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