The future of ALS diagnosis and staging: where do we go from here?

Abstract

Amyotrophic lateral sclerosis (ALS) is a rare, progressive multi-system neurodegenerative disorder. Its clinical presentation varies considerably leading to delays in diagnosis, which has dire consequences in a disease where early intervention is key to optimize outcomes and limit care giver burden. There are a range of diagnostic criteria available to aid ALS diagnosis, as well staging methods to assess disease progression. However, they all suffer from inter-rater variability, complexity, and confusion in use. Such difficulties, when medical appointment times are limited and becoming more virtually based, have the potential to amplify uncertainty and errors in ALS diagnosis and prognosis. This review provides a clinical overview of the best way to balance the needs of evidence-based medicine and the patient. We focus on ALS diagnostic criteria and staging systems currently in use in clinical practice and explore factors that could enhance diagnostic efficiency and assessment of disease progression.

Keywords:

• ALS
• diagnosis
• prognosis
• clinical stage
• clinical trials

Declaration of interest

In accordance with Taylor & Francis policy and my ethical obligation as a researcher, I am reporting that I, Dr Angela Genge have received funding from the following companies: Alexion, Als-Pharma, Amicus Therapeutics, Amylyx, Anelixis, Anexon, Apellis, Atlantic Research Group, Biogen, Calico, Cytokinetics, Eli Lilly, Ionis, Medtronic, Mitsubishi Tanabe Pharma, Orion, QurAlis, RA Pharma, Roche, Sanofi Genzyme, UCB, Wave Life Therapies. I am also a paid consultant for Amylyx Pharmaceuticals. I have disclosed these interests fully to Taylor & Francis, and I have in place a plan for managing any potential conflicts arising from these disclosures.

In accordance with Taylor & Francis policy and my ethical obligation as a researcher, I am reporting that I, Dr Adriano Chiò serve on scientific advisory boards for Mitsubishi Tanabe, Biogen, Roche, Denali Pharma, Cytokinetics, Lilly, and Amylyx Pharmaceuticals. I have also received a research grant from Biogen. I have disclosed these interests fully to Taylor & Francis, and I have in place a plan for managing any potential conflicts arising from these disclosures.

Additional information

Funding

Medical writing assistance for this manuscript was provided by KTP (Knowledge Translation Partners), Montreal, Canada, funded by Amylyx Pharmaceuticals.