The Knowns and Unknowns about Amyotrophic Lateral Sclerosis (ALS)Posted on by
“It is the ‘knowns’ that keep me humble, and the ‘unknowns’ that keep me challenged,” says Paul Mehta, M.D. Paul is a medical epidemiologist and the principal investigator who provides oversight for the congressionally mandated National Amyotrophic Lateral Sclerosis (ALS) Registry at the Agency for Toxic Substances and Disease Registry (ATSDR) in Atlanta.
ALS is also known as “Lou Gehrig’s disease,” named after renowned baseball player Lou Gehrig who was diagnosed with ALS in 1939 when he was just 36. Over 75 years have passed since, and ALS continues to perplex researchers and patients alike.
Humbling and Challenging
“As a scientist it is both humbling and challenging to work at CDC/ATSDR. When you are a federal scientist, there are many challenges that must be overcome, especially when you are working with a disease like ALS, which has many unknowns and knowns,” says Paul.
The Knowns of ALS:
- ALS is a disease of the nerves and muscles that gets worse over time.
- Approximately 80% of patients die within 2 – 5 years of diagnosis; the prognosis or outcome differs patient to patient.
- Ten percent of cases are genetic in origin; 90% of cases are sporadic (random) in origin.
- The disease affects mostly whites and mostly men.
- Current treatment extends life expectancy by only 2 – 3 months on average.
The Unknowns of ALS:
- How random cases of ALS could be linked to the environment.
- Where, what, and when environmental links occur.
- Why the disease affects mostly whites and mostly men.
- Why the disease affects veterans, and professional athletes.
- How ALS can be treated or cured.
The National ALS Registry
In 2008, Congress passed the ALS Registry Act giving ATSDR the responsibility for developing and managing the registry, and in 2010, ATSDR launched the first and only ALS Registry in the United States. The population-based registry collects and analyzes data on persons with ALS in the United States.
The goal of the ALS Registry is to gather information that can be used to
- Estimate the number of new cases of ALS each year
- Estimate the number of people who have ALS at a specific point in time
- Understand more about who gets ALS and what factors affect the disease
- Examine the connection between ALS and other disorders that can be confused with ALS
There were almost sixteen thousand cases of ALS in the ALS Registry as of 2013. The Registry gets data from multiple sources such as Medicare, and the Veterans Administration, and from self-identification by individuals with ALS. ATSDR anticipates releasing its 2014 prevalence report later this year.
Dr. Mehta and his team work very closely with ALS advocacy and support groups, researchers, healthcare professionals, and others to encourage those living with ALS to join the Registry and take risk factor surveys.
National ALS Biorepository and Research Notification System
In January 2017, ATSDR launched another component of the National ALS Registry—the first national biorepository for ALS in the United States. The term “biorepository” usually refers to a facility that collects and stores samples of biological material. Samples in the ALS biorepository could include blood, urine, and saliva, and are used to help advance ALS research. When a patient joins the Registry, he or she can choose to receive information on how to donate samples. There is no cost or fee for patients to participate.
The Registry collaborates with academic and private industry to assist with their recruitment efforts. Recruiting for clinical trials and studies can be difficult and expensive. The Registry’s research notification system informs patients who have chosen to receive email about trials and studies they may be eligible for.
“Researchers can work with the Registry in a variety of ways, including obtaining data and/or samples from the Registry/Biorepository and requesting help recruiting for their clinical trials and studies. To date, thirty institutions have used this free mechanism to assist with recruitment and over 100,000 emails have been sent to patients,” says Paul.
PALS (Persons with ALS)
What Dr. Mehta finds most humbling is meeting persons with ALS, known as “PALS,” as they are called. “The majority of them are selfless individuals. They themselves know that in their lifetime there may not be a treatment or a cure for ALS, but they want to help others. To me, that is very humbling. They range from those in their thirties, to middle-aged, and to the very old,” he says. ALS does not discriminate and can affect anyone.
Dr. Mehta feels privileged to meet with PALS through partnership meetings and educational symposiums that are open to patients, and their essential caregivers throughout the country. He uses these opportunities to speak with them, learn their stories, and listen to their feedback about the National ALS Registry to learn what ATSDR can improve upon and do better.
About Dr. Paul Mehta
Paul is married, and the father of three sons: one in college, one in high school, and one in middle school. His wife works as a nurse practitioner at the Veterans Affairs Medical Center in Atlanta. And they have two dogs that add to their busy and boisterous household.
When not working or parenting, he uses his very limited free time playing tennis, working out at the gym, catching up on reading, and watching U.S. and world news on TV, which he encourages his sons to do as well.
Although Paul was born in New Delhi, India, he grew up in Toledo, Ohio, after his parents immigrated to the U.S. when he was five years old. He came to Atlanta after medical school in 2000. Paul trained in the National Health Service in England, making the decision to go into public health instead of private practice to have an impact on individual health, but on a broader scale. Post-graduate training in the National Health Service allowed him to see how public health is delivered in different parts of the world.
Growing up, Paul always wanted to be a physician. His father was in business, but relatives on his mother’s side of the family were physicians – uncles, aunts, and cousins. So from an early age, he always had the drive to contribute to science and to care for individuals.
Paul joined CDC in 2002 as a contractor, then became an employee in 2006, starting out as a team leader for CDC’s Division of Select Agents and Toxins. He moved to what is now the Division of Toxicology and Human Health Sciences at ATSDR as principal investigator for ALS when a position opened up in October of 2013. Paul considers his work at CDC/ATSDR the high point of his career.
Paul feels privileged to work with a dedicated and cohesive team of about a dozen talented, hardworking epidemiologists, statisticians, health scientists, and health communicators, whose purpose is to make the ALS Registry the very best it can be. “Most importantly, and most challenging, we are here to figure out the unknowns for ALS such as the environmental risk factors, who gets ALS, and why. We want to advance ALS research to try and determine the causes for ALS, leading to better treatments for the disease, and possibly a cure.”
ATSDR advances this goal by funding research into environmental causes for ALS, and by working with some of the best scientists nationwide and around the world. Paul emphasizes the importance of being very open and working with partners both at home and abroad. “You can’t work in a bubble,” he says.
Ice Bucket Challenge for ALS
The Ice Bucket Challenge is an activity involving the dumping of a bucket of ice and water over a person’s head to promote awareness of ALS, and encourage donations to research. It went viral during July–August 2014. The instigating force behind the Ice Bucket Challenge was Pete Frates, a baseball player from Boston who, like Gehrig, was diagnosed with ALS and helped garner attention for the disease.
Because about five to six thousand people die from ALS annually, and another five to six thousand are diagnosed with it, Paul was gratified to see national attention called to this devastating and fatal disease.
“ALS is a rare disease, unlike Parkinson’s or Alzheimer’s,” says Paul, “but ALS shares some clinical characteristics with these diseases.” One interesting and important difference is that Alzheimer’s patients experience memory loss, but remain physically intact, while ALS patients retain their mental faculties, but their bodies completely fail them.
For the first time in 20 years, a new drug, Radicava, was released this year to treat patients with ALS. While it does not cure ALS, it does slow the progression of the disease. And for those with a genetic component for ALS, there are early clinical trials underway to see if gene therapy can help slow down the disease as well.
“ALS is a devastating and debilitating disease. We need to make certain that we have resources available both at the federal and private level, because there is currently no cure,” says Paul. “At the federal level, a lot of the clinical trials are spearheaded by the Food and Drug Administration. The National Institutes for Health also conducts clinical trials, and at CDC/ATSDR we study the impact of ALS on public health, and who it affects.”
Dr. Paul Mehta emphasizes that “currently there are more unknowns than knowns about ALS, and with the National ALS Registry we are looking to figure out the ‘why’ of ALS, who gets ALS, and how. We are committed to advancing research and going forward with our partners to find better treatments for and solve the mysteries of ALS,” he says.
To learn more about ALS and join the Registry, go to: www.cdc.gov/als
To learn more about the National ALS Biorepository go to:
To read the latest published articles go to:
To see the first-ever CDC Grand Rounds on the National ALS Registry, go to: https://www.cdc.gov/cdcgrandrounds/archives/2017/april2017.html
To watch a short video on the National ALS Registry, go to: https://wwwn.cdc.gov/ALS/Download/Learn%20more%20about%20the%20National%20ALS%20Registry.mp4
To learn more about ATSDR, go to https://www.atsdr.cdc.gov/