Charcot-Marie-Tooth disease (CMT) comprises a group of progressive peripheral neuropathies which affect an estimated 2.6 million people worldwide. It is a spectrum of diseases which can be divided into demyelinating and axonal forms, along with other more complex forms which cause abnormalities and damage to the peripheral nervous system. CMT results in symptoms such as muscle pain, nerve pain, hand tremors, numbness and curled fingers and toes. A diagnosis of CMT is dependent on a neurophysiological and neurological examination of the patient and there are currently no validated biomarkers to track disease progress or any potential benefits derived from a novel therapy, creating a challenge for drug discovery.
This new observational biomarker study builds on the findings from our initial study investigating the changes in plasma-based proteins related to brain development in the plasma of CMT patients. The results from this study showed that a protein known as neurofilament light chain (NfL), a marker of neuronal damage, was increased in the plasma of CMT patients. This study also showed for the first time that acetylated alpha-tubulin is reduced in the plasma of CMT patients. Acetylated alpha-tubulin is formed when the alpha-tubulin protein, a key structural component of microtubules, undergoes a chemical modification called acetylation, which can impact the dynamic instability of microtubules. Microtubules support the structure and functions of cells, such as neurons, by alternating between growth and shrinkage, a process known as dynamic instability.
The aim of this study is to investigate if observed changes in plasma-based proteins related to brain development reflect changes in the peripheral nerves of CMT patients compared with controls. The presence of these changes may in turn indicate abnormal processes taking place which contribute to disease progression, such as neuronal damage. Peripheral nerve samples will be taken via skin biopsy, and plasma will be collected via blood withdrawal at IRCCS San Raffaele Hospital in Milan and University Hospital Gaetano Martino in Messina.
The sample collection for this study is being carried out through our first foreign branch, Ulysses Neuroscience Italia. In Italy, we have found an environment of highly motivated clinicians, patients and families, with the presence of a number of “centres of excellence” where we have established important connections, including the IRCCS San Raffaele Hospital in Milan and University Hospital Gaetano Martino in Messina. Adding Italy as a study site allows Ulysses Neuroscience to expand our clinical research capabilities by adding the Italian diseased population to our studies and by creating a collaboration hub for patients, carers, and healthcare specialists to share knowledge in service of meaningful research development.
Ulysses Neuroscience is carrying out this clinical study investigating biomarkers of CMT with the goal of advancing the drug discovery process towards the development of effective therapies.
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