Pharnext SA, a biopharmaceutical company, recently announced results in a PLOS ONE article entitled “Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A).” (Prukop et al.)
About Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth (CMT) disease, commonly called hereditary sensory and motor neuropathy, is generally passed on from parent to child with a 50% chance of the child inheriting the disease. Sensory nerves enable you to feel what you are touching; motor nerves affect movement and run to the spinal cord and brain; and neuropathy is the dysfunction of one or more nerves. CMT affects 2.6 million people worldwide. It is one of the most common inherited nerve disorders and was named after the three doctors who first identified it.
Five main types of CMT have been identified along with many sub-types. Efforts to define all types of CMT are ongoing. However, CMT type 1 is most common.
Defects in Genes Coding
Researchers have identified more than 30 genes implicated in CMT and have discovered that faulty genes cause the disease. Nerve damage can be caused by defects in genes coding for proteins affecting axons (part of a nerve cell) or affecting the insulating myelin coating around each axon.
Dr. Manzoor Bhat, lead author of the study and associate professor in the UNC School of Medicine’s department of cell and molecular physiology explained that “Much like a live electrical wire, axons require insulation in order for impulses to travel without leakage or loss of strength.”
Over time, the damage to the axons and the myelin results in weak signals and subsequent loss of strength to the extremities.
Conclusion
Scientists have concluded that Charcot-Marie-Tooth disease is caused by over-expression of myelin protein PMP22 which leads to defects of myelination, loss of long axons, progressive impairment, then disability. CMT1A has been genetically well defined but its origin and development are still unclear.
Daniel Cohen, M.D., Ph.D., Co-Founder and Chief Executive Officer of Pharnext, an advanced clinical-stage biopharmaceutical company developing novel therapeutics for orphan and common neurodegenerative diseases, offered the following regarding the potential of PST3003: “Such findings validate our preclinical data on PXT3003 in CMT1A to-date, as well as our clinical data, based on the positive top-line Phase 3 data from October 2018. From the findings in this publication, we believe that PXT3003 has the potential to change the treatment paradigm for children with CMT1A – for whom there are currently no pharmacological treatments available.” A Phase 3 clinical trial in children to investigate the safety and efficacy of PXT3003 is anticipated by the end of 2019.
To access the Prukop paper please click here.
