Three new studies at the University of Michigan Health System seek to help people with the terminal illness known as Lou Gehrig's disease live and breathe more comfortably, and communicate better with the world.
Each of the studies is now open to new participants who have amyotrophic lateral sclerosis, or ALS, which is the formal name for the disease. About 30,000 Americans have the disease, and 5,600 are diagnosed each year.
The studies are offered through the U-M Motor Neuron Disease Center, which is one of only 32 nationwide certified by the ALS Association. One of the new studies is funded by ALS Association, the other two by the National Institutes of Health.
Two of the studies address a serious problem for people with ALS: breathing.
Because the disease affects the nerves that help control the body's muscles, patients slowly lose the ability to push air out of their lungs and take new air in. As ALS progresses, patients need breathing assistance to stay alive. Even still, respiratory failure is the leading specific cause of death for people with ALS.
One of the new studies hopes to determine whether patients might do better if they receive intermittent breathing assistance earlier in their disease course, rather than waiting until breathing muscles are very weak.
The study uses a machine called a BiPAP, or bi-level positive airway pressure, which generates air flow through a mask to keep the patient's airway open and make it easier for them to breathe.
Typically, ALS patients start using a BiPAP machine after they drop below 50 percent on a breathing test called forced vital capacity. But the new trial will start intermittent BiPAP treatment earlier, even before patients may perceive breathing problems.
The idea, says study leader Kirsten Gruis, M.D., is to see whether the earlier treatment helps patients' quality of life and level of fatigue, and whether it promotes longer survival. Gruis is co-director of the Motor Neuron Disease Center and an assistant professor of neurology at the U-M Medical School.
At first, patients will just use the device during sleep, naps or rest time. Half of the patients will actually receive a sham BiPAP device, which will act as a placebo and allow the researchers to compare the results between two groups of patients.
The second study targets ALS patients who are having trouble tolerating BiPAP treatment to help them breathe. For such patients, exhaling against a current of air, which is part of standard BiPAP therapy, is too difficult.
In this study, patients will receive a "laptop ventilator", which uses the same mask as a BiPAP machine but can generate air pressure only when a patient is inhaling. The device, about the size of a laptop computer and weighing 20 pounds, can also be adjusted to alter air pressures.
Gruis and her colleagues hope the study will show whether this type of breathing settings can be more comfortable than standard BiPAP settings.
Gruis and her colleagues developed the first breathing study because ALS patients who use intermittent BiPAP when they have significant respiratory muscle weakness appear to have improved survival. However, it is unknown if starting BiPAP very early in the disease course will improve ALS patient survival even further.
The second breathing study was developed as a response to patients' complaints that they struggle to exhale against the BiPAP. Working with respiratory therapists and manufacturers Respironics and Viasys Pulmonetic Systems, the U-M team developed the study protocols and the sham BiPAP machine.
The third ALS study now under way at U-M is headed by Robert Welsh, Ph.D., of the U-M Department of Radiology's basic science division.
Using functional magnetic resonance imaging (fMRI) brain scanning, he will examine the brains of people with ALS while they perform, as well as imagine performing, a series of physical tasks. This will allow him to map the active areas of the brain over a period of several years. The study also needs healthy people to volunteer as comparison subjects.
The goal: to map the areas of the brain that could be used as the target of a potential brain-computer interface that could allow ALS patients to communicate with the outside world.
Right now, many ALS patients in the advanced stages of the illness communicate through computer systems that rely on eye movements or tiny muscle movements in the face, but such systems are only useful as long as those muscles can move. The idea of tapping directly into the brain's cortex with a computer-controlling device is very promising, but to achieve that goal will take thorough knowledge of how ALS affects the brain.