Modena, Italy – June 21, 2024 – The CoMPaSS-NMD clinic is a new specialized center for neuromuscular diseases. Patients can now benefit from expert doctors and innovative diagnostic technologies (based on artificial intelligence) that can improve the lives of people with neuromuscular diseases and their caregivers. Thanks to artificial intelligence, doctors will be able to make more accurate diagnoses, provide the most appropriate care for each specific case, and provide information on how to prevent or manage the disease.
Comprehensive Diagnosis and Care
When patients arrive at the clinic, they meet with two specialists: a geneticist and a neurologist to whom they explain their difficulties and ask their questions. The visit, called “neurogenetic”, is divided into two phases: in the first, the doctors ask the patients about their health, their family’s health and their habits (work, sport, traumas, medications they take). In the second phase, they examine the patients to obtain information on their physical condition.
The purpose of this visit is to gather as much information as possible to reconstruct the details of the disease and understand:
- If it is hereditary (and therefore if it can be transmitted to children)
- What are the associated risks
- What are the factors that can trigger or worsen the disease
The presence of both a geneticist and a neurologist is essential for an accurate diagnosis. During this evaluation, family members may also be involved to provide additional information.
Advanced Diagnostic Tools
In addition to the specialized clinical visit, patients undergo a blood and muscle tissue sample and a muscle MRI. These tests provide essential data to support the specialists’ initial diagnosis hypothesis.
Artificial Intelligence for Improved Diagnosis
By participating in the CoMPaSS-NMD European project, patients contribute to improving the path to a faster and more accurate diagnosis. This will be possible thanks to artificial intelligence-based systems that will be programmed to integrate data collected from genetic tests, MRI images, muscle biopsy data and symptoms reported directly by patients.
The value of these computational systems lies in their ability to process and analyze a large amount of data collected from both previous studies, which serve to lay the foundation for analysis, and from patients who will participate in the study. Artificial intelligence systems allow the processing of the large amount of data obtained from thousands of people to be able to group patients into groups, called “clusters”, with similar clinical and genetic characteristics.
The more data is analyzed, the more efficient and accurate the system becomes. This is what we call “machine learning”, a branch of computer science that allows us to identify relationships between data that would not be recognizable with classical analysis methods.
Thanks to this learning ability, the artificial intelligence systems developed in the CoMPaSS-NMD project will be able to expand the diagnostic capabilities of doctors, allowing them and patients to better understand the disease and find better treatment solutions.
Study Participation
The study coordination, for Italy, is at the Modena University Hospital. Patients and clinical centers interested from all over Italy can participate in the study.
The CoMPaSS-NMD project, led by Prof. Tupler of the University of Modena and Reggio Emilia, will end in 2027, providing important support to patients with neuromuscular diseases without a definitive diagnosis.
For those interested in participating in the trial and for further information, please contact the project coordinator here.
