Fueled by a surge in funding from the viral ALS Ice Bucket Challenge, an initiative launched in August 2014 that raised $220 million in donations, Vermont neurologist Rup Tandan, M.D, F.R.C.P., and researchers across the country are looking at the environment for clues to the cause of ALS – also known as amyotrophic lateral sclerosis (ALS) or Lou Gehrig’s disease.

ALS is a progressive neurodegenerative disease that damages nerve cells in the brain and spinal cord. It leads to a decline in voluntary muscle control and movement, including the ability to swallow and breathe, ultimately causing paralysis and death. About 30,000 people in the United States have ALS at any time. There is no cure, and there is only one medication approved for the disease.

A year ago, U.S. supporters – including the University of Vermont Medical Center’s ALS team, led by Tandan, and dozens of Vermont businesses – took up the challenge in unexpected numbers. This month, the ALS Association is promoting the Ice Bucket Challenge again, using the #EveryAugustUntilACure hashtag on social media channels. Participants video-record themselves dumping pails of cold water on their heads to raise awareness and money.

A total of $115 million of the 2014 campaign went to the ALS Association, which has distributed 67 percent of the funds to research and 20 percent to patient and community services. Tandan, a University of Vermont professor of neurological sciences and medical director of the ALS clinic at the UVM Medical Center, and other experts in the field want to better understand the environmental mechanisms that lead to ALS.

Researchers have long recognized clusters of ALS in certain geographic areas – including in the northeastern United States, especially around large bodies of water – leading to questions about environmental causes, Tandan says. “That’s what we are investigating.”

The four institutions involved in that study, including UVM and Dartmouth-Hitchcock Medical Center, have begun collecting environmental histories and biological material from ALS patients. With a grant from the ALS Association, and previous funding from the U.S. Centers for Disease Control (CDC), these researchers will look at whether ALS patients have enhanced exposure to some toxin or toxins in their surroundings, and then whether they have enhanced genetic susceptibility to developing ALS from that exposure.

From there, researchers can study patients’ genetic makeup to look for a uniform mechanism that might cause the disease. The discovery of that mechanism could lead to development of new treatments for ALS, and possibly even a cure.

Meanwhile, Tandan is also focused on improving quality of life for ALS patients – in particular their nutrition intake and their respiratory function. He wants to determine if clinicians can make life easier for people with ALS. 

The National Institutes of Health funded a study evaluating the nutritional needs of ALS patients at 11 medical centers, including UVM. The researchers developed a validated equation to accurately predict the optimal calories needed by patients during the course of their disease, and have made that equation available to ALS clinics to be used worldwide.

If patients are nutritionally compromised, Tandan says, “then they suffer more from the disease and the disease progresses more rapidly.”

UVM is also involved in a new study of ALS patients who have lost breathing function, looking at the use of a pacemaker to stimulate the diaphragm after the brain has stopped doing that, so as to help with breathing function. Following his neck injury, the late actor Christopher Reeve had a pacemaker inserted into his diaphragm to help with breathing.

A surgeon at Case Western Reserve University has pioneered this technique, Tandan says. “We are in the process of training one of our surgeons here to be able to implant these pacemakers in appropriate patients.”

Improvements in disease management have helped extend survival for ALS patients. They are now living an average of four to five years after diagnosis, Tandan says, compared with two to three years in the past. With continued research, he and other ALS specialists hope to improve patient outcomes even further.