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International cooperation project launched under the joint leadership of the University Medical Center Göttingen (UMG) and the Timone University Hospital in Marseille, France, to identify new biomarkers for the early diagnosis and treatment of Charcot-Marie-Tooth disease type 1A. The three-year project is funded with more than 700,000 euros by the French AFM-Téléthon - Association Française contre les Myopathies.
Charcot-Marie-Tooth disease (CMT) is one of the most common hereditary neurological diseases worldwide. It affects around one in 2,500 people and is therefore classed as a “rare disease”. The most common subtype of CMT is CMT1A. Due to a genetic defect, the duplication of the gene for peripheral myelin protein (PMP) 22, patients develop slowly progressive nerve damage. This begins in early childhood and is accompanied by muscle weakness and muscle breakdown, which leads to walking difficulties or foot deformities. Later, sensory disorders such as numbness, tingling and pain occur and the strength in the arms and legs increasingly diminishes. In rare cases, patients are confined to a wheelchair.
Despite significant advances in diagnostics, there is currently no treatment for CMT1A. This represents a considerable burden for those affected, as the disease significantly reduces their quality of life. One of the main reasons for the lack of effective therapies is the current lack of specific disease markers (“biomarkers”) to assess the severity, progression and response to treatment - especially in the early stages of the disease, when therapies should already begin to prevent irreversible damage to the nerves.
An international team of researchers led by Prof. Dr. Michael W. Sereda, Senior Physician in the Department of Neurology at the UMG and Head of the Translational Neurogenetics Research Group at the Max Planck Institute for Multidisciplinary Sciences, and Prof. Dr. Shahram Attarian, head of the Neuromuscular Disease and ALS Reference Center at Timone University Hospital in Marseille, France, has set itself the goal of identifying new biomarkers that can be used to diagnose and predict the course of the disease in young CMT1A patients. To this end, blood samples from CMT1A patients as well as skin samples and nerve tissue from a CMT1A animal model are examined using multi-omics analyses and combined with imaging techniques such as magnetic resonance imaging. The data sets obtained are analyzed using artificial intelligence (AI). The project “CMT-MODs” (“Multi-Omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease”) is funded by the French AFM-Téléthon - Association Française contre les Myopathies with more than 700,000 euros for three years.
“With multi-omics analyses, we can examine different types of biological data simultaneously and combine them with findings from other methods. This gives us a comprehensive picture of how the disease develops and which biomolecules can be used as standard markers to determine the severity of the disease and provide information about its progression,” says Prof. Sereda. “These novel diagnostic measures are essential for clinical trials in young patients in the early stages of the disease in order to treat the disease as early as possible. Because once nerve cells have been destroyed, they cannot be restored,” says Prof. Sereda.
The study in detail
For the study, blood samples from 70 CMT1A patients and 40 healthy control subjects consisting of children, adolescents and young adults from Germany and France aged between ten and 30 years will be examined over a period of twelve months. With the consent of the study participants, skin samples are also taken by punch biopsy and included in the study. The samples are analyzed using so-called multi-omics methods, i.e. data sets of biomolecules of different origins such as RNA sequences, proteins and fats are examined and biological correlations are determined. These findings will then be combined with patient data, for example magnetic resonance imaging (MRI) images. In parallel, studies will be carried out in a CMT1A animal model and, in addition to blood samples, skin samples and nerve tissue will also be examined.
Special attention will be paid to the combination of machine learning, a method based on artificial intelligence (AI), and molecular data to create a diagnostic platform. This data collection will make it possible to better understand the disease and make predictions about its progression.
Partners involved
In addition to the Department of Neurology, the UMG's Department of Pediatrics and Adolescent Medicine, the Department of Clinical Chemistry with the Proteome Analysis Service and the Department of Medical Statistics are involved. The Max Planck Institute for Multidisciplinary Sciences in Göttingen, the University of Cambridge in the UK and German and French patient organizations are also involved in the study.
Dr. Rabea Oberthür, Department of Neurology, Phone +49 551 / 39-64162, rabea.oberthuer@med.uni-goettingen.de, https://neurologie.umg.eu/aerzte-zuweiser/spezialambulanzen/neurogenetik/
https://www.cmt-mod.org/ - Further information on the study
Prof. Dr. Michael W. Sereda, Senior Physician in the Department of Neurology at the University Medic ...
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