General information
The main objective of our studies is to comprehensively characterize the biomarker profile in patients with Amyotrophic lateral sclerosis (ALS) stratified by clinical phenotypes, in comparison with controls and patients with frontotemporal dementia (FTD), to analyse their utility in the definition of different variants and in prediction of survival.
It is recognized that there are different forms of MND, and that the way in which the disease spreads is very variable between patients, but it is not known the causes of this variability. There is no specific test for the diagnosis of the disease, and this depends on the recognition of the typical clinical features. This can cause a diagnostic delay.
There is compelling evidence that multiple factors, including clinical phenotype, cortical atrophy, neuropsychological and behaviour involvement and genetic factors, may influence survival in ALS. The characterization of biomarkers profile in large groups of patients, taken into account all these factors, should allow us to assess their utility to establish a precise classification of patients and identify factors linked to survival variability.
The characterization of ALS biomarkers across different motor phenotypes, using a standardized approach for assessment, would have an important impact in the identification of clinical subtypes and related features and their influence in survival. Biomarkers may be relevant in a population in which, due to the heterogeneity of clinical phenotype, diagnosis is further delayed and prognosis not well determined. The characterization of biomarkers profile should allow us to assess the clinical utility to establish a precise characterization of patients and identify factors linked to survival variability.
Our studies would allow the investigation of clinical phenotypes and key biomarkers and their relationship to each other, and ultimately enable the quantification and validation of these data in ALS and related motor neuron diseases. May also help to identify factors that may speed up the diagnosis and to understand how the disease spreads and progress. An understanding of these factors might lead to a better understanding of pathogenic pathways of ALS and related disorders and more targeted treatments, as well as a better way to monitor progression in clinical practice and drug trials.
For our current research projects, we have established cooperation with the research team of the Memory Unit of our centre and with the Barcelona IDIBAPS Brain Bank. We have set up an integrated multidisciplinary group with proven capacity. The expertise of the whole group covers all aspects of our current studies. Also, the research team has proved its experience through scientific publications in journals of the first quartile, in the implementation and interpretation of all the techniques used in this project and has also proved its experience in collaborative studies.
The Memory Unit research team is a multidisciplinary clinical unit with experience in the diagnosis and treatment of patients with cognitive impairment and in applied and translational research in the field of neurodegenerative dementias.