Potential utility of biomarkers in the diagnosis and treatment of ALS

Author(s): Benjamin Chee Chuan Cheah, Steve Vucic, Matthew Colm Kiernan

Amyotrophic lateral sclerosis (ALS) is a rare, neurodegenerative disease of the human motor system, with a median survival of 3 years from symptom onset. The age of onset is typically the 5th decade, with the clinical picture representing unrelenting progressive muscle weakness and resultant disability. Despite countless clinical trials examining novel medications, disease-modifying therapies remain limited, with riluzole affording a survival benefit of approximately 3 months. To date, the diagnosis and treatment of ALS have been hampered by lack of effective biomarkers. A diagnostic biomarker for ALS would enable prompt initiation of neuroprotective therapy, ideally when neural structures were intact and disease severity remained mild. Furthermore, a biomarker capable of monitoring disease progression may facilitate conduct of future clinical trials, by reducing sample size and trial duration. As such, the present review summarizes pathophysiology, diagnosis and treatment of ALS, with a focus on the development of effective biomarkers.