Racial Disparities in the Diagnosis and Prognosis of ALS Patients in the United States

Journal of Racial and Ethnic Health Disparities https://doi.org/10.1007/s40615-024-02099-6 Racial Disparities in the Diagnosis and Prognosis of ALS Patients in the United States Jaime Raymond1 Paul Mehta1 · Theresa Nair1 · Kelly Graham Gwathmey2 · Theodore Larson1 · D. Kevin Horton1 · Received: 4 January 2024 / Revised: 8 July 2024 / Accepted: 18 July 2024 This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2024 Abstract Background Amyotrophic lateral sclerosis (ALS) is a progressive, fatal disease with largely unknown etiology. This study compares racial differences in clinical characteristics of ALS patients enrolled in the National ALS Registry (Registry). Methods Data from ALS patients who completed the Registry’s online clinical survey during 2013–2022 were analyzed to determine characteristics such as site of onset, associated symptoms, time of symptom onset to diagnosis, and pharmacological and non-pharmacological interventions for White, Black, and other race patients. Results Surveys were completed by 4242 participants. Findings revealed that Black ALS patients were more likely to be diagnosed at a younger age, to have arm or hand initial site of onset, and to experience pneumonia than were White ALS patients. ALS patients of other races were more likely than White ALS patients to be diagnosed at a younger age and to experience twitching. The mean interval between the first sign of weakness and an ALS diagnosis for Black patients was almost 24 months, statistically greater than that of White (p = 0.0374; 16 months) and other race patients (p = 0.0518; 15.8 months). The mean interval between problems with speech until diagnosis was shorter for White patients (6.3 months) than for Black patients (17.7 months) and other race patients (14.8 months). Conclusions and Relevance Registry data shows racial disparities still exist in the diagnosis and clinical characteristics of ALS patients. Increased recruitment of non-White ALS patients and better characterization of symptom onset between races might aid clinicians in diagnosing ALS sooner, leading to earlier therapeutic interventions. Keywords Amyotrophic lateral sclerosis · Race · Minority populations · Clinical characteristics of ALS patients Introduction Disclaimer The findings and conclusions in this report are those of the author(s) and do not necessarily represent the official position of the Centers for Disease Control and Prevention/the Agency for Toxic Substances and Disease Registry. * Jaime Raymond 1 Office of Analytics and Innovation, Agency for Toxic Substances and Disease Registry/Centers for Disease Control and Prevention, 4770 Buford Hwy, Atlanta, GA 30341, USA 2 Department of Neurology, Virginia Commonwealth University, Richmond, VA, USA Amyotrophic lateral sclerosis (ALS) is a progressively fatal disease of which the actual pathogenesis and cause(s) remain largely unknown [1]. Recently studies have shown ALS in the United States (U.S.) to be more commonly diagnosed in White males over 60 years of age [2]. Previous epidemiologic studies addressing racial variation in ALS diagnosis and clinical characteristics have been limited [3, 4]. Global ALS prevalence rates vary widely ranging from 4.1 per 100,000 persons in Norway [5] to 8.4 per 100,000 persons in North-Eastern Italy [6, 7]. The most recent prevalence report in the U.S. estimated an adjusted prevalence rate of 9.1 per 100,000 persons [2]. One population-based study in the southeast part of the U.S. found a prevalence rate of 3.04 per 100,000 persons for the Black population [8]. Clinical characteristics vary widely among patients (e.g., site of onset, progression of the disease) [9]. The diagnosis Vol.:(0123456789) Journal of Racial and Ethnic Health Disparities of ALS can be challenging, with the site of onset resulting in several different phenotypes that include limb-onset, bulbar/ respiratory-onset, or trunk/global onset [10]. Persons with bulbar onset typically have shorter life expectancy versus those with limb onset [11]. Patients typically experience various symptoms during the course of the disease such as muscle cramps, twitching (fasciculations), problems with speech (dysarthria), and difficulty swallowing (dysphagia) [12]. To date, only 10% of ALS cases are familial; the remaining cases are considered sporadic [13]. Studies have suggested that genetic, environment, and lifestyle factors play a significant role in ALS occurrence and phenotype [14–17]. The purpose of this paper is to compare racial differences in clinical characteristics of ALS patients enrolled in the U.S. National ALS Registry (Registry). Because ALS onset and progression among minority races have not been studied widely, these data provide additional information on phenotypic differences in a national population [12, 17, 18]. Having a better understanding of ALS among non-White patients regarding onset and progression might aid clinicians in making a quicker diagnosis, which could lead to earlier therapeutic interventions and help narrow the disparities, especially access to care, in those populations. Demographic Survey Module The demographic survey module was one of the first six modules created for ALS patients to take part in. This module launched on October 19, 2010, when the Registry was initiated. Race was defined by standard federal definitions. For this analysis, the categories are White, Black, and other race. If more than one race was chosen, participants were categorized as other race. Body mass index (BMI) was calculated using a standard formula: BMI = weight (lb) / [height (in)]2 × 703 [24]. Other selected demographic characteristics for those who completed the clinical survey module were abstracted, including sex, ethnicity, age at diagnosis, and year registered. Clinical Symptoms Survey Module Methods The clinical symptoms survey module was created in partnership with the ALS Research Group, which includes U.S. and Canadian neurologists and researchers. The purpose of the module is to examine physical symptoms that participants developed before and after an ALS diagnosis. The survey contains 54 questions and covers topics such as the site of onset, time of initial symptom onset to diagnosis, and time from diagnosis to hospice referral. This module was launched in November 2013 for new Registry enrollees. Previous enrollees were prompted to return to the web portal to complete this survey. The National ALS Registry Data Analysis Methods In October 2010, the Agency for Toxic Substances and Disease Registry (ATSDR), part of the Centers for Disease Control and Prevention (CDC), launched the congressionally mandated, population-based National ALS Registry to help clarify the epidemiology of ALS in the U.S. [19]. The Registry’s purpose is to quantify the incidence and prevalence of ALS in the U.S., describe the patient demographics, and examine potential risk factor (...truncated)