New Study on Biomarkers for Charcot-Marie-Tooth Type 1

New Study on Biomarkers for Charcot-Marie-Tooth Type 1

A clinical study primarily designed and sponsored by Ulysses Neuroscience, conducted at Tallaght University Hospital, Ireland, and supervised by Prof. Sinéad Murphy, aims to identify new biomarkers for CMT1A (at this time only on this specific subtype due to its prevalence).

Ulysses Neuroscience Ltd., in collaboration with Tallaght University Hospital Ireland and our association, is excited to announce a new research study on Charcot-Marie-Tooth disease (CMT) dedicated to patients with type CMT1A. This study is a continuation of previous research conducted among Irish CMT patients, which showed promising results in identifying specific biomarkers for this condition.

Study Objectives: New Biomarkers for CMT1A

Biomarkers, or biological markers, are substances present in our blood that act as a “signal” to identify and assess the progression of a specific disease. They are a valuable tool for clinicians as they provide indications, for example, about the effectiveness of a particular treatment. With many new therapies soon entering clinical trials for CMT, the lack of molecular biomarkers remains a fundamental limitation in assessing treatment efficacy in this slowly progressing disease.

The primary goal of the study is to confirm and deepen the knowledge of biomarkers identified in a previous study involving Irish CMT patients, such as acetylated alpha-tubulin and light neurofilaments. These biomarkers are associated with a neuronal structure called the cytoskeleton, the "skeleton" of our cells, and are altered in the presence of neuronal damage.

The previous study on Irish CMT patients showed a decrease in acetylated alpha-tubulin and light neurofilaments in the plasma of patients compared to healthy controls. This new study aims to further analyze how these indicators may be correlated with disease progression and specific symptoms. The information gathered could guide the development of new, more effective diagnostic and therapeutic strategies. It should be noted that alpha-tubulin is also a specific target of some therapies under study, such as HDAC6 inhibitors. HDAC6 is an enzyme that promotes the deacetylation of alpha-tubulin.

The Study and What is Required to Participate

The purpose of the study is to identify potential serum biomarkers for type CMT1A, in order to find a low-cost and easily accessible method that can serve diagnostic and prognostic purposes and to evaluate therapeutic efficacy in studies.

What Will I Need to Do to Participate?

Participants will need to attend a single visit at Tallaght University Hospital Ireland, where specialized professionals from Prof. Sinéad Murphy’s team will take care of collecting biological samples. The biological samples collected will be blood through standard venous draw (about 10ml). Additionally, the patient will be evaluated using two clinical rating scales to measure the severity of the pathology: the CMT Examination Score (CMTES) and the Overall Neuropathy Limitations Scale (ONLS), a modified scale for measuring peripheral neuropathies.

It is important to note that participation in this study does not require any further visits after the initial one. All assessments and sample collections will occur in a single day, thus minimizing the impact on the daily lives of participants. The safety of participants and the confidentiality of data are of utmost priority. All information collected will be treated with the highest level of confidentiality and in compliance with data protection regulations (GDPR).

Image readapted with released consent from https://www.acmt-rete.it/nuovo-studio-biomarcatori-per-la-charcot-marie-tooth-di-tipo-1

Am I Eligible to Participate?

We need both patients and healthy volunteers, important for assessing whether variations in biomarker levels are specifically due to CMT.

You can participate if:

• You have a genetic diagnosis of CMT type 1A;

• You are a healthy volunteer (Control) and your gender and age match the age and gender of the recruited CMT patients, you have not had any past developmental neurological disorder, neurological disorder, migraine, mental health disease (including depression, schizophrenia, autism, or attention deficit hyperactivity disorder) or head trauma, and you are not taking psychoactive drugs to treat attention deficit hyperactivity disorder such as methylphenidate, amphetamines, atomoxetine, and guanfacine.

• If you wish to participate, please contact Prof. Sinéad Murphy as soon as possible by email at Sinead.Murphy@tuh.ie to arrange an appointment.

• If you have any questions about this study please contact Clinical Research Associate Nadia Boulahia by email nadia.boulahia@ulysses-neuro.com

Thank you in advance to those who decide to participate in this study.

At Ulysses NeuroScience, our current research zeroes in on a common subtype of Charcot-Marie-Tooth disease, known as CMT1A. We've chosen to focus here because of its prevalence. Despite this, we recognize that many other types of CMT impact individuals globally. We are committed to extending our research to these other types in the future. For now, the insights we gain from our CMT 1A study will inform our broader efforts to tackle various forms of CMT.