Neurodegeneration is a pathological process affecting a large group of heterogeneous diseases, causing irreversible and progressive damage of the central or peripheral nervous system. The clinical application of emerging biomarkers for early diagnosis and monitoring of neurodegenerative disorders is urgently needed, the gold standard currently being the clinical picture and imaging techniques. The recent rise of new disease-modifying therapies increases the need for biomarkers that might allow screening in at-risk individuals, and allow early diagnosis for early treatment administration and timely monitoring of treatment course. Such biomarkers could eventually be used as surrogate endpoints in clinical trials. Effective biomarkers for use in a clinical setting would involve minimally invasive diagnostic procedures, that might be easily repeated and cost-effective, in order to step forward towards the goal of precision medicine.
In the last few years, solid advances in analytical methods and innovative technologies have led to a progressive shift of biomarkers traditionally tested in cerebrospinal fluid (CSF) towards blood. These high-sensitive techniques allow quantification of very low concentrations, accurately measuring ranges of pico- or even femto-gram or mole per Liter, and have been, in some cases, developed on automated platforms with a satisfactory level of standardization. Thus, opening the road to an extensive body of evidence regarding the extent of direct correlations between blood and CSF molecules concentrations. High-sensitivity, standardization and correlation are the pillars of translational research that are allowing the forthcoming introduction of blood testing along with or instead of CSF testing in clinical practice. A “Copernican revolution” that is ready to happen and that we must be prepared to manage, with definite analytical protocols and clinical algorithms.
The purpose of this article collection is to compose an updated picture of the current state-of-the-art and future perspectives of diagnostic applications of blood biomarkers for neurodegenerative disorders. Toward this aim, this Research Topic welcomes original research articles, reviews, mini-review, methods articles, and opinions that include, but are not limited to, the following themes:
• Defining which biomarker has accomplished clinical validation and for which clinical use
• Assessments of analytical performances for high-sensitive assays, including Single molecule array (SIMOA) and proteomic-based methods
• Studies addressing preanalytical variables that impact the measurement of biomarkers in healthy and disease conditions
• Proposing diagnostic algorithms that combine new biomarkers in laboratory routine practice
• The most up-to-date findings with regards to the most well-established biomarkers such as Neurofilaments, ß-Amyloid, Tau proteins, Glial fibrillary acidic protein, a-Synuclein, TDP-43, Micro RNAs, Neurogranin
Conflict of Interest Disclosure: Prof Jessica Mandrioli reports receiving advisory board fees from Biogen and Italfarmaco, grant support from Roche, and grant support from Pfizer. Prof Elena Pegoraro reports serving on a scientific advisory board for Sarepta, Roche, Biogen, Alexion, UCB and Epirium, and has received speaker honoraria from Biogen. No other competing interests are declared.
Neurodegeneration is a pathological process affecting a large group of heterogeneous diseases, causing irreversible and progressive damage of the central or peripheral nervous system. The clinical application of emerging biomarkers for early diagnosis and monitoring of neurodegenerative disorders is urgently needed, the gold standard currently being the clinical picture and imaging techniques. The recent rise of new disease-modifying therapies increases the need for biomarkers that might allow screening in at-risk individuals, and allow early diagnosis for early treatment administration and timely monitoring of treatment course. Such biomarkers could eventually be used as surrogate endpoints in clinical trials. Effective biomarkers for use in a clinical setting would involve minimally invasive diagnostic procedures, that might be easily repeated and cost-effective, in order to step forward towards the goal of precision medicine.
In the last few years, solid advances in analytical methods and innovative technologies have led to a progressive shift of biomarkers traditionally tested in cerebrospinal fluid (CSF) towards blood. These high-sensitive techniques allow quantification of very low concentrations, accurately measuring ranges of pico- or even femto-gram or mole per Liter, and have been, in some cases, developed on automated platforms with a satisfactory level of standardization. Thus, opening the road to an extensive body of evidence regarding the extent of direct correlations between blood and CSF molecules concentrations. High-sensitivity, standardization and correlation are the pillars of translational research that are allowing the forthcoming introduction of blood testing along with or instead of CSF testing in clinical practice. A “Copernican revolution” that is ready to happen and that we must be prepared to manage, with definite analytical protocols and clinical algorithms.
The purpose of this article collection is to compose an updated picture of the current state-of-the-art and future perspectives of diagnostic applications of blood biomarkers for neurodegenerative disorders. Toward this aim, this Research Topic welcomes original research articles, reviews, mini-review, methods articles, and opinions that include, but are not limited to, the following themes:
• Defining which biomarker has accomplished clinical validation and for which clinical use
• Assessments of analytical performances for high-sensitive assays, including Single molecule array (SIMOA) and proteomic-based methods
• Studies addressing preanalytical variables that impact the measurement of biomarkers in healthy and disease conditions
• Proposing diagnostic algorithms that combine new biomarkers in laboratory routine practice
• The most up-to-date findings with regards to the most well-established biomarkers such as Neurofilaments, ß-Amyloid, Tau proteins, Glial fibrillary acidic protein, a-Synuclein, TDP-43, Micro RNAs, Neurogranin
Conflict of Interest Disclosure: Prof Jessica Mandrioli reports receiving advisory board fees from Biogen and Italfarmaco, grant support from Roche, and grant support from Pfizer. Prof Elena Pegoraro reports serving on a scientific advisory board for Sarepta, Roche, Biogen, Alexion, UCB and Epirium, and has received speaker honoraria from Biogen. No other competing interests are declared.
