Clinical characteristics of a large cohort of US participants enrolled in the National Amyotrophic Lateral Sclerosis (ALS) Registry, 2010–2015

Abstract

Background: Amyotrophic lateral sclerosis (ALS) is a progressive fatal disease with a varying range of clinical characteristics. Objective: To describe the clinical characteristics in a large cohort of ALS participants enrolled in the National ALS Registry. Methods: Data from ALS participants who completed the Registry's online clinical survey module during 2010-2015 were analyzed to determine characteristics, such as site of onset, associated symptoms, time of symptom onset to diagnosis, time of diagnosis to hospice referral, and pharmacological and non-pharmacological interventions. Results: Of the 1758 participants who completed the survey, 60.9% were male, 62.1% were 50-69 years old, and 95.5% white. Approximately, 72.0% reported initial limb weakness onset of disease, followed by bulbar (22.1%), and trunk/global onset (6.1%). Other symptoms ever experienced included cramps (56.7%), fasciculations (56.3%), and dysarthria (33.0%). The median time between an increase of muscle cramps until an ALS diagnosis was 12 months; limb onset participants had cramps longer preceding diagnosis versus those with bulbar onset. The most frequent interventions used included riluzole (48.3% currently using), wheelchairs/scooters (32.8%), and noninvasive breathing equipment (30.0%). Participants with trunk/global onset were referred to hospice almost four times earlier than others. Conclusions: These data show how ALS clinical characteristics differ widely in a large cohort of participants preceding diagnosis and reflect variations in disease onset, progression, and prognosis. Better characterization of symptom onset may assist clinicians in diagnosing ALS sooner, which could lead to earlier therapeutic interventions.

Recruitment of population-based controls for ALS cases from the National ALS Registry

“…This involved results of ALS DNA analysis and POPs concentrations, and DNA material from carriers of the c9orf72 mutation. Eight of the 17 risk factor surveys available through the National ALS Registry are used in this study, including self-reported information on demographic characteristics, personal characteristics, occupational and residential history, as well as environmental and occupational exposures with the methods previously published (2). For the current study, a survey similar to those used by the National ALS Registry was created in Qualtrics and administered to controls by phone by trained interviewers using computer-assisted telephone interviewing (CATI), as described below.…”

Overnight Pulse Oximetry to Determine Prognostic Factors in Subjects With Amyotrophic Lateral Sclerosis

“…12 The measure of bulbar dysfunction in ALS is complex as well as are the factors associated with a poor prognosis. 11,13 It is probable that the poor prognosis of bulbar ALS is related to alterations in swallowing (malnutrition) and repetitive microaspirations (tracheobronchitis and aspiration pneumonia). In a study conducted to evaluate the relationship between FVC < 50% and nocturnal S pO 2 , no significant difference in S pO 2 values were observed among the subjects with FVC > 50% or < 50% of predicted.…”

Keratinous biomarker of mercury exposure associated with amyotrophic lateral sclerosis risk in a nationwide U.S. study

“…Eligible ALS patients were identified from the National ALS Biorepository of the populationbased National ALS Registry project, which is conducted by the U.S. federal Agency for Toxic Substances and Disease Registry (ATSDR), part of the Centers for Disease Control and Prevention (CDC) (21,22). ALS patients in the National ALS Registry are identified using a two-pronged approach.…”