The CMT Research Foundation (CMTRF), a non-profit focused solely on delivering treatments and cures for Charcot-Marie-Tooth disease (CMT), has invested in a project led by Dr. Charles Abrams, a Professor in the Department of Neurology and Rehabilitation at the University of Illinois at Chicago. The study will determine if a commercially available drug can improve symptoms in mouse models of Charcot-Marie-Tooth disease type 1X-which is the second most common form of CMT. If successful, these studies will provide a strong basis for working to quickly advance this already commercially available drug as a potential clinical treatment for CMT1X patients.
CMT1X is caused by mutations in the gene that encodes for the connexin 32 gap junction protein. CMT1X is known to be associated with inflammation, which is thought to contribute to damage of the protective covering of nerve cells, a process known as demyelination, which leads to disease symptoms.
Previous work done by Dr. Abrams demonstrated that nerves of a mouse model of CMT1X have reduced levels of adenosine, a naturally occurring molecule with anti-inflammatory properties, which provides a potential explanation for the nerve inflammation observed in CMT1X. Dr. Abrams and his team will perform a series of experiments to test whether a commercially available immunosuppressive drug can reduce the severity of the neuropathy in two mouse models of CMT1X by increasing the levels of adenosine and reducing nerve inflammation.
Dr. Abrams, a member of the CMTRF Scientific Advisory Board, will collaborate on this project with Mona Freidin, an Assistant Professor at the University of Illinois at Chicago, whose expertise lies in connexin biology; and Dr. Benayahu Elbaz, an Assistant Professor of Neurology at Northwestern University, whose research focuses on myelin and myelin-forming cells in both the central and peripheral nervous systems.
“Dr. Abrams specializes in studying the roles of connexins, or gap junction proteins, in myelination in both the central and peripheral nervous systems,” says Cleary Simpson, CEO of CMTRF. “His work is consistently productive and key to helping us find cures for ALL forms of CMT.”
I have CMTX and it has taken control recently and dramatically…if you are looking for patients willing to test new or experimental drugs please don’t hesitate to contact me…I am not receiving the proper health and support from medical professionals as they don’t know anything about the disease and they have shown that they are interested in understanding it.
I have CMT 2E I want experimental drugs please help me I am from india
I have CMTX1. My 42 year old son does also. So do his two daughters obviously. They are 11 and 12 years of age. We would love to be a part of any experimental treatments. We need help.
Hi there I have cmt1a and know one here in Australia seems to know nothing about what treatment could work I have thought of stem cell therapy and I have heard this could work,but not totally sure of this treatment would dearly love some advice.Cheers Mick
Are you in the stage where you are doing human clinical trials? I am very interested in participating! Please let me know. Thank you!
My daughter has cmt1x as well. We’re very very interested in learning the results. What is the commercially available drug being experimented on?
I have CMT1X as well as my two younger brothers. Sign us up for human trials when the time comes. Our lives have been ruined thanks to this horrible disease!
Dr. Abrams is not at the clinical trial phase of his drug development. In fact, if you look carefully he is only testing his theory in a mouse model.
I am 74 years old and I have CMT disease. Please contact me if there are any appropriate drug trials that may benefit me. I will be happy to provide appropriate medical records.
I was diagnosis with CMT some 20 plus years ago when little was known about CMT. Since then, I have had reconstructive surgery on foot 4 times. The issue caused by CMT has thrown out my gate and caused issued with the hip as well. That was replaced 14 years ago. All the gate issues resulted in back issues and now there is talks about back surgery. Pain is a constant and I have been in pain management for 10 years. If you have something that can result in slowing down any further complications I would gladly be on board. Anything that I can do to help prevent future generations, especially my daughter, NOT experience the effects of CMT as I have, would be a blessing. Please consider me for any trails. Thank you.