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We live in truly amazing times. Technological advances seem to be changing every aspect of our lives. During the past several years, we have witnessed numerous technological developments that were once limited to science fiction: 3-D-printed ears with built-in hearing aids, plastic exoskeletons for people suffering from paralysis, inexpensive prosthetic arms, and nanotechnology to treat various types of cancer, just to name a few. Within the next couple of years, I hope to personally participate in one of these amazing breakthroughs: a treatment for one of the most common forms of muscular dystrophy, Charcot-Marie-Tooth, or CMT.
CMT is a neurological disorder than slowly destroys the peripheral nerves in the arms and legs. This destruction leads to a lack of nerve sensation in the hands and feet, and, subsequently, to muscular degeneration. CMT affects about 1 in 2,500 (about 2.8 million people worldwide) and is the most commonly inherited peripheral nerve disorder. Early symptoms include very high arches, walking on one’s toes and foot drop. As symptoms worsen, balance issues and clumsiness due to the numbness become more pronounced.
I inherited CMT from my father’s side of the family, as have two of my children. I have dozens of cousins, sometimes several generations removed, who have CMT, but with widely differing severities.
While the symptoms of CMT were first described by physicians in England and France in 1886, progress in understanding the disease and developing a treatment was slow. During the following century, it was determined that in most CMT patients, the peripheral neuropathy was caused by excessive amounts of a protein wrapping around the myelin sheath or axons of the peripheral nerves. In essence, the protein smothers the electrical signal, slowing down patients’ response times (e.g. I’m awful at sports or video games that require fast reactions). But then, new technology dramatically accelerated things.
In 1992, researchers discovered that the duplication of the PMP22 gene in chromosome 17 caused 70 to 80% of all CMT cases. Since then, 90 different gene mutations have been identified as causing forms of CMT. In 2010, CMT was one of the first diseases that utilized the sequencing of a person’s entire genome to diagnose a patient’s disease.
As a result of the dynamic advances in DNA research, many of my family members are participating in a major genetic research study at the University of Iowa that seeks to identify which additional genetic markers cause patients within the same family to have more or less severe symptoms. Now, for the exciting news: A French company named Pharnext has developed an innovative way to screen possible treatment candidates and essentially “rapid prototype” treatments for neurological diseases, including Alzheimer’s and CMT, among others. The idea is to screen 2,000 candidate drugs -- in the case of CMT, to determine which ones reduce the amounts of PMP22. The 50 most promising drugs are tested individually, of which the 25 most effective are next tested in combination to see which synergistic compounds provide the most promise. The four most effective compounds then advance to animal testing before the leading candidate begins three phases of human clinical trials. This approach, when successful, can get drugs into physicians’ hands for patient treatment within 8-12 years.
Pharnext’s treatment for the most common form of CMT (CMT1A) has successfully passed preclinical and Phase 2 studies. The latter showed not only no further nerve deterioration, but some restoration of nerve function. Interestingly, the treatment is simply a combination of three existing medications already used to treat other diseases. The Phase 3 study involving patients in the U.S., Canada and Europe will be completed next month, and a nine-month follow up will be initiated later this year. Results will be published in the second half of 2018. The preclinical results were published in 2014, so a potential treatment could be available to patients in late 2018 or 2019! This kind of speed to market is unheard of in the pharmaceutical industry.
A disease that has affected my family for generations, whose cause was unknown until 1992, can now be relatively inexpensively screened (contact your local MDA office for details). My children and I -- and millions of others with CMT -- now have hope for a near term treatment solution thanks to some incredible advances in medical technology. Yes, we do live in amazing times!
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