A recent article in the Centers for Disease Control and Prevention's Morbidity and Mortality Weekly Report highlights efforts - as well as challenges - in documenting the prevalence of the debilitating neuromuscular disease amyotrophic lateral sclerosis in the country.
Some 6,250 new cases of ALS were diagnosed in 2015, a slight but not significant increase from 2014, with higher rates among whites, males, and those over the age of 60 as well as a higher prevalence in the Midwest and Northeast.
The article notes that these "patterns are similar to those identified from 2010 to 2014" and that the "prevalence of ALS cases for 2015 appears to be stable."
However, authors of the article note the databases - Medicare, Veterans Health Administration, and Veterans Benefits Administration - on which the majority of reporting is based include "a large percentage of persons aged 50 and over" and do not represent the entire U.S. population.
The databases are used by the National ALS Registry, created by Congress in 2008, to help researchers analyze the number of diagnosed cases in the country since, like most noncommunicable diseases, it is not a nationally notifiable, and do allow others with ALS to enroll and for those enrolled to list their risk factors with the hope that more outreach, engagement and information will lead to better understanding of the disease.
In 2015, the estimated prevalence of ALS cases was 5.2 per 100,000 population with a total of 16,583 cases identified. According to the report, some 62 percent of these were identified through the national administrative databases; 19 percent by self-report through the web portal registration and 19 percent from information in both database and portal.
The National ALS Biorepository, a registry component, collects fluid and tissue samples from across the country for researchers to investigate the disease for which there are treatments to slow its course but no cure and for which there is no known cause other than the five to 10 percent of inherited cases.
The registry has funded some 16 research projects with a focus on genetic components, possible associations to other diseases as well exposure to environmental toxins.
Dr. Elijah Stommel of Dartmouth College's Hitchcock Center received a three-year grant from the registry in September to look at "Environmental risk factors for ALS: critical time periods and genetic interactions."
A three-year grant to Columbia University will "validate new non-invasive methods to identify the toxic exposures to which ALS patient brains could be exposed, and to elucidate which mechanisms link toxic exposures and disease progression." This will include testing "biospecimens from persons with ALS for metals and non-persistent pesticides."
Massachusetts General Hospital and Columbia University Medical Center are among institutions with clinical trials approved to recruit patients in the registry. Forty institutions have received such approval to date.
Sometimes referred to as Lou Gehrig's disease after the New York Yankee baseball player who developed it in 1939, ALS was the focus of a popular fund-raiser - the ALS Ice Bucket Challenge - that raised $115 million for the ALS Association in 2014.
It was the focus of recent Masslive stories when Springfield District Court Judge William J. Boyle retired in August, citing the progression of his ALS. His predecessor in the same office, Judge Robert F. Kumor Jr., had ALS as well and died from complications of the disease in 2013, raising issues of possible environmental toxins such as lead though recent initial testing at the 45-year-old courthouse building was said to be normal.
Governor A. Paul Cellucci, who nominated Boyle for his judgeship in 1999, also died of complications from the disease in 2013.