Evaluation of the Completeness of ALS Case Ascertainment in the US National ALS Registry: Application of the Capture-Recapture Method.

INTRODUCTION: The Centers for Disease Control and Prevention (CDC) National Amyotrophic Lateral Sclerosis (ALS) Registry is the first national registry for a chronic neurologic disease in the USA and uses a combination of case-finding methods including administrative healthcare data and patient self-registration. METHODS: We applied capture-recapture methodology to estimate the completeness of the Registry for ascertaining patients with ALS for the first full year and the fourth year of the Registry (2011, 2014). The Registry uses the combination of two national administrative claims databases (Medicare and Veterans Affairs) with a self-register option at the registry portal. We conducted descriptive analyses of the demographic and clinical characteristics of the ALS cases identified by each of the sources and estimated the completeness of case ascertainment for each of the three ALS Registry sources individually, pairwise, and in all combinations. RESULTS: Case-finding completeness was 54% in 2011 and improved to 56% in 2014. A smaller proportion of ALS patients under age 65 were ascertained than those 65 or older, and ascertainment was also lower for nonwhite than white patients. The uncorrected ALS prevalence was 4.3/100,000 in 2011 (in 2014, 5.0/100,000), but after correction for underascertainment, annual prevalence in 2011 was 7.9/100,000 (95% CI: 7.6-8.2) (in 2014 was 8.9/100,000 [95% CI: 8.7-9.2]). DISCUSSION/CONCLUSION: Our findings indicate that administrative healthcare databases are a very efficient method for identifying the majority of ALS prevalent cases in the National ALS Registry and that the inclusion of a web registry portal for patients to self-register is important to ensure a more representative population for estimating ALS prevalence. Nonetheless, more than 40% of ALS cases were not ascertained by the Registry, with individuals younger than age 65 and people of color underrepresented. Recommendations are provided for additional methods that can be considered to improve the completeness of case ascertainment.

Rising prevalence of multiple sclerosis worldwide: Insights from the Atlas of MS, third edition.

BACKGROUND: High-quality epidemiologic data worldwide are needed to improve our understanding of disease risk, support health policy to meet the diverse needs of people with multiple sclerosis (MS) and support advocacy efforts. OBJECTIVES: The Atlas of MS is an open-source global compendium of data regarding the epidemiology of MS and the availability of resources for people with MS reported at country, regional and global levels. METHODS: Country representatives reported epidemiologic data and their sources via survey between September 2019 and March 2020, covering prevalence and incidence in males, females and children, and age and MS type at diagnosis. Regional analyses and comparisons with 2013 data were conducted. RESULTS: A total of 2.8 million people are estimated to live with MS worldwide (35.9 per 100,000 population). MS prevalence has increased in every world region since 2013 but gaps in prevalence estimates persist. The pooled incidence rate across 75 reporting countries is 2.1 per 100,000 persons/year, and the mean age of diagnosis is 32 years. Females are twice as likely to live with MS as males. CONCLUSIONS: The global prevalence of MS has risen since 2013, but good surveillance data is not universal. Action is needed by multiple stakeholders to close knowledge gaps.

Feasibility of Using a Nationally Representative Telephone Survey to Monitor Multiple Sclerosis Prevalence in the United States.

BACKGROUND: Multiple sclerosis (MS) is the most common chronic neurologic disease of young adults, placing a heavy burden on patients, families, and the healthcare system. Ongoing surveillance of the incidence and prevalence of MS is critical for health policy and research, but feasible options are limited in the United States and many other countries. We investigated the feasibility of monitoring the prevalence of MS using a large national telephone survey of the adult US population. METHODS: We developed questions to estimate the lifetime prevalence and age of onset of MS using the US-based Behavioral Risk Factor Surveillance System (BRFSS) and piloted these questions in 4 states (MN, RI, MD, and TX). There was a total of 45,198 respondents aged 18 years and above. Analyses investigated individual state and combined prevalence estimates along with health-related comorbidities and limitations. MS prevalence estimates from the BRFSS were compared to estimates from multi-source administrative claims and traditional population-based methods. RESULTS: The estimated lifetime prevalence of self-reported MS (per 100,000 adults) was 682 (95% CI 528-836); 384 (95% CI 239-529) among males and 957 (95% CI 694-1,220) among females. Estimates were consistent across the 4 states but much higher than recently published estimates using population-based administrative claims data. This was observed for both national results and for MS prevalence estimates from other studies within specific states (MN, RI, and TX). Prevalence estimates for Caucasian, African American, and Hispanic respondents were 824, 741, and 349 per 100,000 respectively. Age and sex distributions were consistent with prior epidemiologic reports. Comorbidity and functional limitations were more pronounced among female than male respondents. CONCLUSIONS: While yielding higher overall MS prevalence estimates compared to recent studies, this large-scale self-report telephone method yielded relative prevalence estimates (e.g., prevalence patterns of MS by sex, age, and race-ethnicity) that were generally comparable to other surveillance approaches. With certain caveats, population-based telephone surveys may eventually offer the ability to investigate novel disease correlates and are relatively feasible, and affordable. Further work is needed to create a valid question set and methodology for case ascertainment before this approach could be adopted to accurately estimate MS prevalence.

Amyotrophic Lateral Sclerosis Mortality in the United States, 2011-2014.

BACKGROUND: The International Classification of Disease, 10th Revision (ICD-10) did not include a code specific for Amyotrophic lateral sclerosis (ALS) until 2017. Instead, code G12.2 included both ALS and other motor neuron diseases (MND). Our objective was to determine US mortality rates for ALS exclusively by excluding other MND and progressive supranuclear palsy. METHODS: All mortality data coded as G12.2 under the pre-2017 rubric were obtained for 2011-2014. Deaths without ALS listed in one of the un-coded cause-of-death fields were excluded. ALS death rates per 100,000 persons were age-adjusted to the 2000 US standard population using the direct method. RESULTS: The proportion of excluded records coded G12.2 but not ALS was 0.21, resulting in 24,328 ALS deaths. The overall age-adjusted mortality rate was 1.70 (95% CI 1.68-1.72). The rate among males was 2.09 (95% CI 2.05-2.12) and females was 1.37 (95% CI 1.35-1.40). The overall rate among whites was 1.84, blacks 1.03, and other races 0.70. For both sexes and all races, the rate increased with age and peaked among 75-79 year-olds. Rates tended to be greater in states at higher latitudes. CONCLUSIONS: Previous reports of ALS mortality in the United States showed similar age, sex, and race distributions but with greater age-adjusted mortality rates due to the inclusion of other diseases in the case definition. When using ICD-10 data collected prior to 2017, additional review of multiple-cause of death data is required for the accurate estimation of ALS deaths.

Estimation of the Prevalence of Amyotrophic Lateral Sclerosis in the United States Using National Administrative Healthcare Data from 2002 to 2004 and Capture-Recapture Methodology.

BACKGROUND: National administrative healthcare data may be used as a case-finding method for prevalence studies of chronic disease in the United States, but the completeness of ascertainment likely varies depending on the disease under study. METHODS: We used 3 case-finding sources (Medicare, Medicaid, and Veterans Administration data) to estimate the prevalence of amyotrophic lateral sclerosis (ALS) in the United States for 2002-2004, and applied the capture-recapture methodology to estimate the degree of under-ascertainment when relying solely on these sources for case identification. RESULTS: Case-finding completeness was 76% overall and did not vary by race, but was lower for males (77%) than for females (88%), and lower for patients under age 65 (66%) than patients over age 65 (79%). The uncorrected ALS prevalence ratio was 2.8/100,000 in 2002, 3.3/100,000 in 2003, and 3.7/100,000 in 2004. After correcting for under-ascertainment, the annual prevalence increased by approximately 1 per 100,000 to 3.7/100,000 in 2002 (95% CI 3.66-3.80), 4.4/100,000 in 2003 (95% CI 4.34-4.50), and 4.8/100,000 in 2004 (95% CI 4.76-4.91). CONCLUSIONS: Federal healthcare claims databases ascertained are a very efficient method for identifying the majority of ALS-prevalent cases in the National ALS Registry, and may be enhanced by having patients self-register through the registry web portal.

Prevalence of Amyotrophic Lateral Sclerosis - United States, 2015.

Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, is a progressive and fatal neuromuscular disease; the majority of ALS patients die within 2-5 years of receiving a diagnosis (1). Familial ALS, a hereditary form of the disease, accounts for 5%-10% of cases, whereas the remaining cases have no clearly defined etiology (1). ALS affects persons of all races and ethnicities; however, whites, males, non-Hispanics, persons aged ≥60 years, and those with a family history of ALS are more likely to develop the disease (2). No cure for ALS has yet been identified, and the lack of proven and effective therapeutic interventions is an ongoing challenge. Treatments currently available, Edaravone and Riluzole, do not cure ALS, but slow disease progression in certain patients (3,4). This report presents National ALS Registry findings regarding ALS prevalence in the United States for the period January 1-December 31, 2015. In 2015, the estimated prevalence of ALS cases was 5.2 per 100,000 population with a total of 16,583 cases identified. Overall, these findings are similar to the 2014 ALS prevalence and case count (5.0 per 100,000; 15,927 cases) (2). Prevalence rates by patient characteristics (most common in whites, males, and persons aged ≥60 years) and U.S. Census regions are consistent with ALS demographics and have not changed from 2014 to 2015 calendar years. The algorithm used to identify cases from national administrative databases was updated from the International Classification of Diseases, Ninth Revision (ICD-9) to the ICD-10 codes for claims starting on October 1, 2015, with no apparent effect on case ascertainment. Data collected by the National ALS Registry are being used to better describe the epidemiology of ALS in the United States and to facilitate research on the genetics, potential biomarkers, environmental pollutants, and etiology for ALS.

Prevalence of Amyotrophic Lateral Sclerosis - United States, 2014.

Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, is a progressive and fatal neuromuscular disease; the majority of ALS patients die within 2-5 years of receiving a diagnosis (1). Familial ALS, a hereditary form of the disease, accounts for 5%-10% of cases, whereas the remaining sporadic cases have no clearly defined etiology (1). ALS affects persons of all races and ethnicities; however, whites, males, non-Hispanics, persons aged >60 years, and those with a family history of ALS are more likely to develop the disease (1-3). No cure for ALS has yet been identified, and the lack of proven and effective therapeutic interventions is an ongoing challenge. Current treatments available do not cure ALS but have been shown to slow disease progression. Until recently, only one drug (riluzole) was approved to treat ALS; however, in 2017, the Food and Drug Administration approved a second drug, edaravone (4).

Integrating a Biorepository Into the National Amyotrophic Lateral Sclerosis Registry.

As part of our continuing effort to highlight innovative approaches to improving the health and environment of communities, the Journal is pleased to publish a bimonthly column from the Agency for Toxic Substances and Disease Registry (ATSDR). ATSDR is a federal public health agency of the U.S. Department of Health and Human Services (HHS) and shares a common office of the Director with the National Center for Environmental Health (NCEH) at the Centers for Disease Control and Prevention (CDC). ATSDR serves the public by using the best science, taking responsive public health actions, and providing trusted health information to prevent harmful exposures and diseases related to toxic substances. The purpose of this column is to inform readers of ATSDR's activities and initiatives to better understand the relationship between exposure to hazardous substances in the environment and their impact on human health and how to protect public health. We believe that the column will provide a valuable resource to our readership by helping to make known the considerable resources and expertise that ATSDR has available to assist communities, states, and others to assure good environmental health practice for all is served. The conclusions of this column are those of the author(s) and do not necessarily represent the views of ATSDR, CDC, or HHS. Kevin Horton is chief of the Environmental Health Surveillance Branch within the Division of Toxicology and Human Health Sciences at ATSDR. Wendy Kaye is a senior epidemiologist at McKing Consulting Corporation. Laurie Wagner is a research associate at McKing Consulting Corporation.

Geographic Variation of Amyotrophic Lateral Sclerosis Incidence in New Jersey, 2009-2011.

Few analyses in the United States have examined geographic variation and socioeconomic disparities in amyotrophic lateral sclerosis (ALS) incidence, because of lack of population-based incidence data. In this analysis, we used population-based ALS data to identify whether ALS incidence clusters geographically and to determine whether ALS risk varies by area-based socioeconomic status (SES). This study included 493 incident ALS cases diagnosed (via El Escorial criteria) in New Jersey between 2009 and 2011. Geographic variation and clustering of ALS incidence was assessed using a spatial scan statistic and Bayesian geoadditive models. Poisson regression was used to estimate the associations between ALS risk and SES based on census-tract median income while controlling for age, sex, and race. ALS incidence varied across and within counties, but there were no statistically significant geographic clusters. SES was associated with ALS incidence. After adjustment for age, sex, and race, the relative risk of ALS was significantly higher (relative risk (RR) = 1.37, 95% confidence interval (CI): 1.02, 1.82) in the highest income quartile than in the lowest. The relative risk of ALS was significantly lower among blacks (RR = 0.57, 95% CI: 0.39, 0.83) and Asians (RR = 0.63, 95% CI: 0.41, 0.97) than among whites. Our findings suggest that ALS incidence in New Jersey appears to be associated with SES and race.

Effects of demographic factors on survival time after a diagnosis of amyotrophic lateral sclerosis.

BACKGROUND: The Agency for Toxic Substances and Disease Registry established surveillance projects to determine the incidence, prevalence, and demographic characteristics of persons with Amyotrophic Lateral Sclerosis (ALS) in defined geographic areas. There is a need to characterize and account for the survival and prognostic factors among a population-based cohort of ALS cases in the United States. METHODS: A cohort of incident cases diagnosed from 2009-2011 in New Jersey was followed until death or December 31, 2013, whichever happened first. Survival was assessed using Kaplan-Meier curves and Cox proportional hazards regression was used to identify prognostic factors. RESULTS: Sixty-four percent of incident cases died between 2009 and 2013, 93.7% specifically from ALS. Among the 456 cases studied in the survival analysis, the median survival from diagnosis was 21 months; 46% of cases survived longer than two years from diagnosis. Older age predicted shorter survival. While there is some indication of differences because of sex, race, and ethnicity, these differences were not statistically significant when accounting for age. CONCLUSIONS: New Jersey mortality data were queried to determine the vital status of a cohort of incident ALS cases and used to investigate relationships between demographic factors and survival. Results are consistent with other population-based studies. Older age was a strong predictor of shorter survival time. Additional follow-up time is needed to characterize longer-term survival.

Amyotrophic lateral sclerosis surveillance in Baltimore and Philadelphia.

INTRODUCTION: Limited epidemiological data on amyotrophic lateral sclerosis (ALS) exist in defined geographic areas in the United States. METHODS: Neurologists submitted case reports for patients under their care between January 1, 2009, and December 31, 2011, who met the El Escorial criteria. Diagnosis was confirmed for a sample of cases by the consulting neurologist. Death certificate data were used for supplemental case identification. RESULTS: The 248 reported cases were most likely to be 50-69 years old, men, white, and non-Hispanic. The total crude average annual incidence rate was 1.46 per 100,000 person-years. CONCLUSIONS: The reported demographic characteristics were consistent with previously published findings. The crude annual incidence was slightly lower than the expected rate of 1.6 but was within the range reported previously (0.7-2.5). These findings help quantify the burden of ALS in the United States.

Updated Prevalence and Demographic Characteristics for ALS Cases in Texas, 2009-2011.

OBJECTIVES: Amyotrophic lateral sclerosis (ALS) is a rare motor neuron disease with incidence rates ranging from 1 to 2/100,000 person-years. The Texas Department of State Health Services previously conducted surveillance for ALS in three metropolitan areas of Texas. This project provides an update to this research, while expanding its scope to the entire state. METHODS: The Texas Department of State Health Services contacted neurologists throughout Texas to determine whether they diagnose or treat patients with ALS. Those neurologists who cared for Texas residents with ALS between 2009 and 2011 were asked to complete a one-page case reporting form for each patient. RESULTS: A total of 1422 unique cases were received. The average crude annual incidence rate was 1.30/100,000 person-years and the 2009 period prevalence rate was 2.92/100,000 individuals. Reported cases were most likely to be 60 to 69 years old, non-Hispanic, white, and men. CONCLUSIONS: This project provides an update to previously published Texas-specific epidemiological data regarding ALS; also, we note that our findings are consistent with previously published studies.

Population-based surveillance of amyotrophic lateral sclerosis in New Jersey, 2009-2011.

BACKGROUND: Limited epidemiological data exist about amyotrophic lateral sclerosis (ALS) in the United States (US). The Agency for Toxic Substances and Disease Registry maintains the National ALS Registry and funded state and metropolitan surveillance projects to obtain reliable, timely information about ALS in defined geographic areas. METHODS: Neurologists submitted case reports for ALS patients under their care between January 1, 2009 and December 31, 2011 who were New Jersey residents. A medical record verification form and electromyogram (EMG) report were requested for a sample of case reports. Incidence rates were standardized to the 2000 US Standard Population. RESULTS: The average crude annual incidence rate was 1.87 per 100,000 person-years, the average age-adjusted annual incidence rate was 1.67 per 100,000 person-years, and the point prevalence rate on December 31, 2011 was 4.40 per 100,000 persons. Average annual incidence rates and point prevalence rates were statistically higher for men compared with women; Whites compared with Blacks/African Americans and Asians; and non-Hispanics compared with Hispanics. CONCLUSIONS: The project findings contribute new, population-based, state-specific information to epidemiological data regarding ALS. The findings are generally consistent with previously published surveillance studies conducted in the US and abroad.

Survival and epidemiology of amyotrophic lateral sclerosis (ALS) cases in the Chicago and Detroit metropolitan cohort: incident cases 2009-2011 and survival through 2018.

Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disorder. The National ALS Registry launched surveillance projects to understand the distribution of ALS in targeted geographic cohorts. OBJECTIVE: To describe the demographics, incidence, and survival of persons with ALS (PALS) identified in the Chicago and Detroit area population-based cohort. METHODS: Neurologists in the catchment area provided case reports for eligible ALS cases diagnosed and/or cared for from 1 January 2009 through 31 December 2011. Crude incidence rates were calculated for 2009-2011 and stratified by race and ethnicity. Using data from the National Death Index through 2018, we modeled the effect of patient covariates on mortality using the Cox proportional hazard regression. RESULTS: Of the 574 cases, 372 (64.8%) were diagnosed from 2009 to 2011. The combined crude incidence rates for 2009, 2010, and 2011 were 1.44, 1.53, and 1.73 cases per 100,000 person-years, respectively. Of the 486 subjects with complete survival data, 81% were deceased at the end of follow-up. Median survival time was 2.2 years, with 30% and 9% of subjects surviving past 5 and 10 years after diagnosis, respectively. Additionally, female PALS and PALS with longer time between symptom onset and diagnosis experienced longer survival. Nonwhites also experienced longer survival than Whites, except for those cases diagnosed in the younger age categories. CONCLUSION: Understanding the survival of ALS patients can aid in understanding variable prognostic factors, which can potentially extend survival and improve disease management.

Prevalence of amyotrophic lateral sclerosis in the United States using established and novel methodologies, 2017.

Objective:To estimate the prevalence of amyotrophic lateral sclerosis (ALS) in the United States for 2017 using data from the National ALS Registry (Registry) as well as capture-recapture methodology to account for under-ascertainment. Established in 2010, the Registry collects and examines data on ALS patients in the US to better describe the epidemiology of ALS (i.e. risk factor exposures, demographics).Methods: The Registry compiled data from national administrative databases (from the Centers for Medicare and Medicaid Services, the Veterans Health Administration, and the Veterans Benefits Administration) and a voluntary enrollment data through a web portal (www.cdc.gov/als). To estimate the number of missing cases, capture-recapture methodology was utilized.Results: The Registry conservatively identified 17,800 adult persons (lower-bound estimate) who met the Registry definition of ALS for an age-adjusted prevalence of 5.5 per 100,000 US population. Using capture-recapture methodology, we obtained a "mean case count" of 24,821 ALS cases (prevalence of 7.7 per 100,000 U.S. population) and estimated the upper-bound estimate to be 31,843 cases (prevalence of 9.9 per 100,000 U.S. population). The pattern of patient characteristics (e.g. age, sex, and race/ethnicity) remained unchanged from previous Registry reports. Overall, ALS was most common among whites, males, and persons aged 60-69 years. The age groups with the lowest number of cases were persons aged 18-39 years. Males had a higher prevalence than females overall and across all data sources.Conclusions: Existing Registry methodology, along with capture-recapture methodology, are being used to better describe the epidemiology and demographics of ALS in the US.

Population-Based Estimates for the Prevalence of Multiple Sclerosis in the United States by Race, Ethnicity, Age, Sex, and Geographic Region.

Importance: Racial, ethnic, and geographic differences in multiple sclerosis (MS) are important factors to assess when determining the disease burden and allocating health care resources. Objective: To calculate the US prevalence of MS in Hispanic, non-Hispanic Black (hereafter referred to as Black), and non-Hispanic White individuals (hereafter referred to as White) stratified by age, sex, and region. Design, Setting, and Participants: A validated algorithm was applied to private, military, and public (Medicaid and Medicare) administrative health claims data sets to identify adult cases of MS between 2008 and 2010. Data analysis took place between 2019 and 2022. The 3-year cumulative prevalence overall was determined in each data set and stratified by age, sex, race, ethnicity, and geography. The insurance pools included 96 million persons from 2008 to 2010. Insurance and stratum-specific estimates were applied to the 2010 US Census data and the findings combined to calculate the 2010 prevalence of MS cumulated over 10 years. No exclusions were made if a person met the algorithm criteria. Main Outcomes and Measurements: Prevalence of MS per 100 000 US adults stratified by demographic group and geography. The 95% CIs were approximated using a binomial distribution. Results: A total of 744 781 persons 18 years and older were identified with MS with 564 426 cases (76%) in females and 180 355 (24%) in males. The median age group was 45 to 54 years, which included 229 216 individuals (31%), with 101 271 aged 18 to 24 years (14%), 158 997 aged 35 to 44 years (21%), 186 758 aged 55 to 64 years (25%), and 68 539 individuals (9%) who were 65 years or older. White individuals were the largest group, comprising 577 725 cases (77%), with 80 276 Black individuals (10%), 53 456 Hispanic individuals (7%), and 33 324 individuals (4%) in the non-Hispanic other category. The estimated 2010 prevalence of MS per 100 000 US adults cumulated over 10 years was 161.2 (95% CI, 159.8-162.5) for Hispanic individuals (regardless of race), 298.4 (95% CI, 296.4-300.5) for Black individuals, 374.8 (95% CI, 373.8-375.8) for White individuals, and 197.7 (95% CI, 195.6-199.9) for individuals from non-Hispanic other racial and ethnic groups. During the same time period, the female to male ratio was 2.9 overall. Age stratification in each of the racial and ethnic groups revealed the highest prevalence of MS in the 45- to 64-year-old age group, regardless of racial and ethnic classification. With each degree of latitude, MS prevalence increased by 16.3 cases per 100 000 (95% CI, 12.7-19.8; P < .001) in the unadjusted prevalence estimates, and 11.7 cases per 100 000 (95% CI, 7.4-16.1; P < .001) in the direct adjusted estimates. The association of latitude with prevalence was strongest in women, Black individuals, and older individuals. Conclusions and Relevance: This study found that White individuals had the highest MS prevalence followed by Black individuals, individuals from other non-Hispanic racial and ethnic groups, and Hispanic individuals. Inconsistent racial and ethnic classifications created heterogeneity within groups. In the United States, MS affects diverse racial and ethnic groups. Prevalence of MS increases significantly and nonuniformly with latitude in the United States, even when adjusted for race, ethnicity, age, and sex. These findings are important for clinicians, researchers, and policy makers.

Global Barriers to the Diagnosis of Multiple Sclerosis: Data From the Multiple Sclerosis International Federation Atlas of MS, Third Edition.

BACKGROUND AND OBJECTIVES: Recent data suggest increasing global prevalence of multiple sclerosis (MS). Early diagnosis of MS reduces the burden of disability-adjusted life years and associated health care costs. Yet diagnostic delays persist in MS care and even within national health care systems with robust resources, comprehensive registries, and MS subspecialist referral networks. The global prevalence and characteristics of barriers to expedited MS diagnosis, particularly in resource-restricted regions, have not been extensively studied. Recent revisions to MS diagnostic criteria demonstrate potential to facilitate earlier diagnosis, but global implementation remains largely unknown. METHODS: The Multiple Sclerosis International Federation third edition of the Atlas of MS was a survey that assessed the current global state of diagnosis including adoption of MS diagnostic criteria; barriers to diagnosis with respect to the patient, health care provider, and health system; and existence of national guidelines or national standards for speed of MS diagnosis. RESULTS: Coordinators from 107 countries (representing approximately 82% of the world population), participated. Eighty-three percent reported at least 1 "major barrier" to early MS diagnosis. The most frequently reported barriers included the following: "lack of awareness of MS symptoms among general public" (68%), "lack of awareness of MS symptoms among health care professionals" (59%), and "lack of availability of health care professionals with knowledge to diagnose MS" (44%). One-third reported lack of "specialist medical equipment or diagnostic tests." Thirty-four percent reported the use of only 2017 McDonald criteria (McD-C) for diagnosis, and 79% reported 2017 McD-C as the "most commonly used criteria." Sixty-six percent reported at least 1 barrier to the adoption of 2017 McD-C, including "neurologists lack awareness or training" by 45%. There was no significant association between national guidelines pertaining to MS diagnosis or practice standards addressing the speed of diagnosis and presence of barriers to early MS diagnosis and implementation of 2017 McD-C. DISCUSSION: This study finds pervasive consistent global barriers to early diagnosis of MS. While these barriers reflected a lack of resources in many countries, data also suggest that interventions designed to develop and implement accessible education and training can provide cost-effective opportunities to improve access to early MS diagnosis.

Prevalence of amyotrophic lateral sclerosis (ALS), United States, 2016.

Objective: To estimate the prevalence of amyotrophic lateral sclerosis (ALS) in the United States for 2016 using data from the National ALS Registry (Registry). Established in 2009, the Registry collects data on ALS patients in the U.S. to better describe the epidemiology of ALS, examine risk factors such as environmental and occupational exposures, and characterize the demographics of those living with the disease. Methods: To identify adult prevalent cases of ALS, the Registry compiles data from three national administrative databases (maintained by the Centers for Medicare and Medicaid Services, the Veterans Health Administration, and the Veterans Benefits Administration). To ascertain cases not necessarily included in these databases and to better understand risk-factors associated with ALS and disease progression, the Registry also includes data collected from patients who voluntarily enroll via a web portal to complete online surveys. Results: In 2016, the Registry conservatively identified 16,424 adult persons who met the Registry definition of ALS for an age-adjusted prevalence rate of 5.2 per 100,000 U.S. population. The pattern of patient characteristics (e.g., age, sex, and race/ethnicity) has not changed from previous Registry reports. Overall, ALS was more common among whites, males, and persons aged 60-69 years. The age groups with the lowest number of ALS cases were persons aged 18-39 years. Males had a higher prevalence rate of ALS than females overall and across all data sources. Conclusions: Data collected by the National ALS Registry are being used to better describe the epidemiology and demographics of ALS in the U.S.

Analysis of Biospecimen Demand and Utilization of Samples from the National Amyotrophic Lateral Sclerosis Biorepository.

Amyotrophic lateral sclerosis (ALS) is a rare neurological condition affecting upper and lower motor neurons. The National ALS Biorepository (referred to as the Biorepository) was initiated in 2015, with biospecimen collection beginning in 2017, as a repository for biospecimens for future ALS research. To help ensure the usefulness of the Biorepository, a biospecimen demand analysis is conducted on an annual basis, as well as an analysis of the utilization of the Biorepository. To determine the types of biospecimens to be collected for the Biorepository, an in-depth initial examination occurred followed by ongoing biospecimen demand and utilization analyses. The initial examination included input from an expert panel, discussions with ALS research experts, review of other ALS biorepositories, assessment of biospecimen demand, and analysis of the biospecimen types historically used in ALS research. Of all biospecimen types reported in the literature, the most frequently used were DNA, postmortem spinal cord, blood, and cerebrospinal fluid; while the frequently reported types of biospecimens used in ALS-related grants were induced pluripotent stem cells, brain, blood, and spinal cord. Continuous analysis of potential sample demand and tissues collected, based on an analysis of the literature and funded grants, and actual sample requests can assist the Biorepository in ensuring that the appropriate samples are available for researchers when they are needed.

Atlanta metropolitan area amyotrophic lateral sclerosis (ALS) surveillance: incidence and prevalence 2009-2011 and survival characteristics through 2015.

Amyotrophic lateral sclerosis (ALS) is a fatal, rare, and hard to diagnose neurological disease with unknown etiology. Objective: To understand the incidence, prevalence, and survival characteristics of ALS cases in the Atlanta metropolitan area. Methods: Neurologists in Clayton, Cobb, DeKalb, Fulton, and Gwinnett counties provided case reports for ALS patients under their care from 1 January 2009 to 31 December 2011. Incidence and prevalence rates were calculated for 2009, 2010, and 2011 by sex, race, and ethnicity. Using data from the National Death Index, survival time was calculated for age, sex, race, ethnicity, and El Escorial criteria. Results: There were 281 unique ALS cases reported, which is approximately 104% of the expected cases. The majority of the 281 cases were white, non-Hispanic, male, and in the 50-59 age category. The overall average incidence rate for 2009 to 2011 was 1.54 per 100,000 person-years, with higher annual incidence rates for whites, males, and non-Hispanics. The prevalence rates for 2009, 2010, and 2011 were 5.05, 5.44, and 5.56 per 100,000, respectively. Median survival time was highest for the 18-39 age group, Asians, non-Hispanics, and males. Additionally, the log-rank tests for homogeneity across strata indicate a statistical significance between strata for the age category for survival time. Conclusion: The findings for Atlanta are similar to other population-based studies in the United States. Although the Atlanta metropolitan area was selected to over-represent the minority population, the strongest predictor of survival time was age at diagnosis.