Clinical Procedures to Support Research in ALS (CAPTURE-ALS)

PROJECT SUMMARY (Project 1: CAPTURE-ALS) Natural history studies are critical for improving clinical trial readiness in rare diseases. Amyotrophic lateral sclerosis (ALS) and related disorders such as progressive muscular atrophy (PMA) and primary lateral sclerosis (PLS) are no exception. While natural history data from these populations might be acquired through the placebo arm of clinical trials or through traditional observational studies, these are both are labor-intensive, pose significant burden to patients and their families, and typically enroll a highly selected subset of the patient population, even excluding patients with PLS and PMA. Acquisition of phenotypic data through the electronic health record (EHR) offers the potential to enable participation of all patients and to better understand the natural course of disease among patients who are typically excluded from clinical trials. To this end, we have built the ALS Toolkit in the Epic EHR system to facilitate the systematic collection of structured data at the point of clinical care and, through the CAPTURE-ALS study, aggregated data from ~1,700 patients (~7,400 encounters) across eleven centers around the United States. With expansion during the forthcoming cycle of funding for the CReATe Consortium, CAPTURE-ALS is envisioned to become the largest, most inclusive, and most diverse, EHR-based cohort of patients with ALS and related disorders. The overarching goals of CAPTURE-ALS are: (1) to characterize the natural history of rare genetic forms of ALS to aid development of personalized therapeutics such antisense oligonucleotides that target the specific underlying cause of disease, and to better define the natural history of trial-ineligible patients; (2) define the performance characteristics of a range of patient reported outcomes (PROs) and novel plasma biomarkers, and explore their potential utility as candidate surrogate markers; and (3) use EHR-derived data to improve the quality of ALS patient care as defined by the American Academy of Neurology quality measures for ALS. CAPTURE-ALS will also serve as the ‘clinical core’ for other CReATe Consortium projects focused on biomarker discovery, the assessment of associations between phenotype and genotype, and how interaction between genetic and environmental risk factors might impact the phenotype of these complex disorders.