Understanding Disease Heterogeneity and Patient Characteristics in Patients with Amyotrophic Lateral Sclerosis (ALS)

Background: Amytrophic lateral sclerosis (ALS) is a fatal neurologic disease that is projected to double in worldwide incidence in the next 20 years. The heterogenic nature of the disease and relatively limited research data, compared to non-rare diseases, have made it difficult for clinician researchers to alter the course of the disease within the short life expectancy after symptom onset. Method: This was a mixed-method retrospective review and live sampling study using three distinct data sources. Retrospective data was abstracted from the electronic medical record systems for a select group of ALS patients seen at the University of California, Irvine Neuromuscular Center (UCI NMC). Additional retrospective datasets curated by the Pooled Resources Open-Access Clinical Trials (PRO-ACT) database were also analyzed. Observational data was collected using a 9-item survey developed on Google Forms and disseminated through the ALS Association Golden West Chapter. The items measured symptom onset, diagnostic journey, and patient demographics.Results: The analyses confirmed current reports of higher disease incidence in Caucasian populations, usually comprising at least 60% of each dataset. The gender prevalence towards males was only observed in the PRO-ACT dataset. There was also a difference in mean age between PRO-ACT (56 years), UCI (61 years), and Online Questionnaire respondents (66 years). Discussion: Ultimately retrospective data analyses were limited by substantial missing, not at random data. Large data repositories can bridge the gap between non-rare and rare disease research, but only with robust and methodologic data collection across all participating sites