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CMT Research Foundation fighting to shorten the time to diagnosis and put CMT on the radar of pharma

Charcot-Marie-Tooth (CMT) Awareness

Patient-led research organisations are changing the landscape for rare disease research and drug development one disease at a time and the CMT Research Foundation are no exception. September is Charcot-Marie-Tooth (CMT) Awareness month and we are delighted to welcome George Simpson, volunteer media relations advisor, as our guest blogger to educate our community on this little understood disorder.

You could have Charcot-Marie-Tooth disease for years before you know It

You are forgiven if you have never heard of Charcot-Marie-Tooth even though the disease is as prevalent as multiple sclerosis and impacts ten times the number of people who have ALS. Named after the three French doctors who first identified it in 1886, CMT affects one in 2,500 people including 150,000 Americans and nearly 3 million people around the world. 

CMT is a largely inherited condition (although it can occur spontaneously in some patients).  It causes progressive deterioration of peripheral nerves that control sensory information and muscle function of the foot/lower leg and hand/forearm leading to significant problems with movement, touch, and balance as it advances. CMT can vary greatly in severity, even within the same family and can cause severe disability and in rare instances, even death. It can be—and often is—passed from parent to child. There is NO treatment or cure for CMT. And because it is progressive and degenerative, patient lives get a little worse each day with no hope of ever getting better.

CMT is widely undiagnosed or misdiagnosed before people fully understand why their bodies are deteriorating.  It is estimated that tens of thousands of people have CMT, but don’t yet know it.  Parents can unknowingly pass it to their children. And there are those who suffer in solitude with their perceived clumsiness, weakness and lack of mobility simply because they don’t know how pervasive the condition is.  

The challenges of receiving a correct  CMT  diagnosis

Charcot-Marie-Tooth (CMT) Awareness

Roy Behlke a former designer with Pratt & Whitney Aircraft, always had trouble with the arches of his feet and foot drop. As a young man, he joined the Boy Scouts, but the mandatory 10-mile hikes were exhausting and frequently required crossing creeks on logs and homemade bridges. Roy ended up falling in the creeks on more than one occasion. As his condition worsened, Roy saw an orthopedic doctor, who diagnosed him with arthritis and said he would need to have his all his major joints replaced, one by one. Alarmed at the diagnosis, Roy saw a rheumatologist, who pointed him to a neurologist and finally a correct diagnosis of CMT at the age of 55.

Charcot-Marie-Tooth (CMT) Awareness

CMT costs Julianna Moon her life.  Her mother, a neurologist, knew early on that something was wrong—Julianna was missing motor milestones as an infant, but cognitively, she was sailing along.  After 18 months of turning over every rock, testing, and consulting with multiple medical professionals and specialists, Julianna’s mother, Dr. Michelle Moon, decided to do some testing of her own—on her husband’s reflexes.  From the test she realized—“Steve has CMT.  Julianna must have it too.” 

Immediately, they ordered genetic tests, but genetic tests only cover the most common types of CMT not rarer cases.  Next, Julianna saw Dr. Michael Shy, a CMT expert who searches for new and rare cases. Julianna was diagnosed with a severe type of CMT which weakened Julianna’s respiratory muscles, amongst many other things, causing her to have to use a BiPAP (a breathing apparatus that pushes air into your lungs) by age two. She went on to became dependent on the device and in a wheelchair by age four.  June 14th, 2016 – just 10 weeks shy of her sixth birthday—Julianna passed away.  

Jaden Ellman (about to start his freshman year at Emory University), as an infant was slow to crawl, had difficulty walking and fell frequently. By 18 months, he was in a full-body cast to “repair” hip dysplasia. When that failed to address his problems, he endured dozens of medical tests such as muscle biopsies, nerve conduction and genetic tests but got no closer than “unspecified myopathy” as a diagnosis.  The assumption was that he had a rare unknown muscle problem with no name. Meanwhile, doctors kept trying to fix whatever damage CMT was doing to his body. At 15, he had a spinal fusion to “repair” scoliosis.  During surgery, the lack of nerve signals revealed that his problem was not muscular at all, but neurological.

More testing by Jaden’s regular doctors was inconclusive, but the mystery was solved when he was accepted into a study at the National Institutes of Health in Bethesda, MD. While being examined by the NIH in Baltimore, the experts there reviewed his earlier generic testing and new test results and concluded Jaden has CMT 1E, a rare form of CMT. Since then, he has been able to address his needs by getting leg braces to improve stability and four foot-surgeries last year to fix the damage CMT caused to his feet. Because CMT can progress at different rates in different patients, Jaden’s parents can only guess how this will impact the rest of his life as he prepares to leave home for college. 

Diagnostic delay and lack of funding

“One of the challenges with the diagnosis of CMT is that there are many other diseases that can present with similar neuropathy symptoms such as diabetes.  That and the length of time from symptom onset to a clearly defined diagnosis for a rare disease is about five years. Typically, this is a long and frustrating journey for patients and the experience of CMT patients is no different,” says Paul R. August PhD, the head of the Scientific Advisory Board at

“…often times with CMT there is some family history of neuropathy that may provide a clue to the diagnosis”
Paul R. August PHD


“However, often times with CMT there is some family history of neuropathy that may provide a clue to the diagnosis but, the absence of a family history does not preclude the possibility of CMT. Diagnosis of the disease is improving but often it takes many appointments over many years to have a neurologist reach a final diagnosis.  

“With the advent of genomic analysis and sequencing as a diagnostic tool the speed of diagnosis is improving. At the present time, neurologists will look at performing nerve conduction velocity tests which can establish if there is a deficit in signal transduction in peripheral nerves,” adds Dr August. “Based upon the result of this assessment it can categorise whether a patient has Type I or Type II CMT or if additional testing is required. Genetic testing is the gold standard since it can establish at a molecular level if there are specific gene mutations that could account for the patient’s disease.”

Part of the answer might be to better educate physicians about CMT, but chronically underfunded patient-led research organisations tend rather to focus on drug development. However, this is not without significant challenge. Diseases that affect many more people are “better bets” for pharma companies due to a larger market for new drugs. Everyone is touched by cancer in some way; not so many are exposed to the effects of CMT. For example, the National Institutes of Health invests nearly $39.2 billion annually in medical research. Of that, ONLY $12 million was spent on CMT in 2018. Meanwhile, NIH spends $112 million annually on Multiple Sclerosis (MS) and $83 million on ALS.

To find out more about the work of the CMT Research Foundation visit their website and connect with them across their social channels below.

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