The CMT Research Foundation (CMTRF) has invested in a study being led by researchers at the University of Illinois at Chicago to investigate whether a commercially available drug could potentially treat X-linked Charcot-Marie-Tooth disease (CMT1X).
The study will determine whether the drug can improve symptoms in mouse models of CMT1X.
Recognised as a rare, peripheral neuropathy disease that is estimated to affect more than 2.6 million people globally, Charcot-Marie-Tooth disease (CMT) is a group of inherited conditions that damage the peripheral nerves, which are found outside the main central nervous system.
Currently the second most common form of CMT, CMTX1 is caused by mutations in the gene that encodes for the connexin 32 gap junction protein.
Associated with inflammation, the condition is said to contribute to the damage of the protective covering of nerve cells, which leads to disease symptoms including muscle weakness, atrophy and numbness.
The study, led by the University of Illinois’s professor in the department of neurology and rehabilitation, Dr Charles Abrams, builds on his previous work, which demonstrated that the nerves of a mouse model of CMTX1 have reduced levels of adenosine – a naturally occurring molecule with anti-inflammatory properties – which provides a potentially theory for the nerve inflammation observed in CMTX1.
“Dr Abrams specialises in studying the roles of connexins or gap junction proteins, in myelination in both the central and peripheral nervous systems,” said Cleary Simpson, chief executive officer, CMTRF.
She continued: “His work is consistently productive and key to helping us find cures for all forms of CMT.”
Throughout the study, Abrams and his team will perform a variety of experiments to test whether the commercially available immunosuppressive drug can reduce the severity of the neuropathy in two CMT1X mouse models by increasing the levels of adenosine and reducing nerve inflammation.
In February, the CMTRF partnered with the 1J Foundation to co-fund the development of an ITPR3 gene mutation mouse model of one of the newest types of CMT to be identified, CMT1J, an autosomal dominant sensorimotor peripheral neuropathy.

https://pharmatimes.com/news/cmt-research-foundation-funds-study-investigating-treatment-for-x-linked-cmt-disease/