This project aims to identify specific biomarkers associated with the severity of Multiple-system atrophy (MSA), a rare and progressive disease with no treatment to date. These biomarkers are a major issue for diagnosing patients accurately and at an early stage, in order to develop new treatments in therapeutic trials.
MSA is a rare, rapidly progressive neurodegenerative disease affecting a wide range of neurological functions. Today, there is no treatment that can modify its fatal evolution, which takes an average period of 6 to 10 years. It is responsible for severe motor impairment of motor skills and balance, and can affect swallowing as well as so-called autonomic functions, leading to urinary disorders and diseases associated with high blood pressure.
The diagnosis is based on essentially clinical criteria that lack precision. This leads to a delay in diagnosis, which is increasingly often four years after the onset of symptoms. Misdiagnoses are also commun, as the disease share many clinical similarities with other neurodegenerative diseases.
However, the prognosis of MSA is radically different from these other pathologies. This limitation is a significant obstacle to specialised care to prevent specific complications of the disease and to research new treatments in therapeutic trials.
Indeed, the effectiveness of current treatments and future clinical trials depends closely on identifying patients at early stages, i.e., before neuronal loss (which is irreversible) that leads to major sequelae.
The search for specific biological markers is therefore a major challenge in identifying patients accurately and at an early stage.
One of the main biological features of MSA is the presence of marked inflammation in the brain. This inflammation takes the form, for example, of an increased amount of molecules or cells involved in the immune response in the biological tissues of patients. It therefore represents a distinctive marker and a potential therapeutic target.
However, current studies are limited by small samples and restricted biological analyses. Based on the sample bank of the French MSA cohort, we propose to carry out a high-reliable and large-scale analysis (384 markers). Some preliminary results on a small sample of the cohort suggest that certain markers are associated with the pathology. With the help of this new collection, we hope to ultimately identify biological markers that will improve the diagnostic and prognostic accuracy of the disease.
This multidisciplinary project, led by David Bendetowicz, MD. PhD., of the Memory and Research Centre MSA team in the Neurology and Neurodegenerative Diseases Department at Bordeaux University Hospital, also involves Margherita Fabbri, MD. PhD. of the Memory and Research Centre MSA team of the Neurology Department of CHU Purpan Toulouse.
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